IDENTIFICATION OF POTENTIAL EXOSITE IN V NECESSARY FOR ELASTIN DEGRADATION

by

LI HSUEN CHEN

B. Sc. McMaster University (2005)

A THESIS SUBMITTED IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF MASTER OF SCIENCE

in

THE FACULTY OF GRADUATE STUDIES

(Biochemistry)

THE UNIVERSITY OF BRITISH COLUMBIA (Vancouver) September 2008

© Li Hsuen Chen, 2008 Abstract

Besides vertebrates Typical the Among Despite cathepsin

whereas and of needed from proteins against those cathepsin Glyl the L

this barrier 112-119)

were

cathepsin

Zn-dependent

residues

very

peptide

18

amino mutant

which

constructed

for

the elastolytic

a

from elastin-Rhodamine

collagen,

cathepsin

involving

contributes

shared L

similar

V

elastin

cysteine and

with

V

from

acids

region

cathepsin

displaying

cathepsin

may

and

similar amino

residues

matrix

subsite

L

112

elastin

act

degradation.

89

cathepsin

and

mutual

is

lacks

cathep

approximately

as to

to

proteins located

V,

evaluated

acid

the an metalloproteinase

to

119

119

specificities,

TVVAPGK

is

it.

and

sins,

exosite

conjugates

swapping

are

collagen

sequence

the

L

highest

A

in

of

insertion

were below

support

It

series

the

cathepsin

cathepsin

most

for

was

for

serine-dependent

60%

constructed

their

activity

of

relatively

subsite identity

(amino

the

common

found of

only

whereas the

of

chimera

of

V. productive

elastolytic

residues

Gly

V

12, importance

S,

activity

cathepsin

Based

that

preserves

binding acids among

K

of

and

between

in

connective

the

resistant

and

over mutants

retaining

several

an

VDIPK

113-119)

on

retention.

region

activities.

pancreatic V

binding

all

attempt

80%

pocket

of

V

the

are the

Prol

the

containing known

has

to

lysosomal

3-D

between highly

the

mutant’s

tissue

FTVVAPGK

(amino

16

amino

of of

non-specific

to

a S2

Several

The

structure peptide

and and

cross-linked

cathepsin

potent

define

mammalian

and

potent

structural

results

acid

Lysi

leukocyte

cathepsins

various

acids cysteine

elastolytic

forms

additional

a

elastase

sequence

region

of

17

specific

elastases

V,

obtained

(amino

degradation.

cathepsin 113-117)

in

proportions

elastin.

a deletion

protein

proteases.

elastases,

elastases.

cathepsin

spanning

wall-like

V

activity

activity

mutant

region

region

and

acids

with

with

V, in

of

of

L 11 Abstract

Table List

List List

Acknowledgements CHAPTER

Reference

CHAPTER

Reference

Reference CHAPTER

of of

of

of

Tables

Figures Abbreviations

1.1 1.2

1.3 2.2 2.1 2.3

2.4

Contents

Human

Human

Elastin

1.2.1

1.2.2

1.2.3 Expeimental 1.3.2 Introduction 1.3.3 1.3.lElastin Result 2.3.2 2.3.3 2.3.1 Discussion

I

II

III

Overview

Manuscript

Conclusion

Human

Tissue Crystal

The Human

1.2.2.2 1.2.2.1

Dissection Initial A 2.3.3.1 Cathepsin 2.3.3.2

Degradation

Cathepsin

Cathepsin

Parallel

Composition

Approach

Distribution

The and

Overall

Structure Cathepsin

Bridge Procedure The

Cathepsin

V

Approach

and

in Introduction

Substrate

Involvement

V Family

Region

TABLE

by

Exchange

Structure

Recommendation

to

of

Human

of

V

V

and

the

Human

Human eDNA

in

to

Binding from

Atherosclerosis OF Identification

Functions

Probe

and

of

Between

Cathepsin

Amino

CONTENTS

and

Cathepsin

Glycine

Cathepsin

Catalytic

the Pocket

Chromosomal

for

Bridge

of

Acid

Cathepsin

V

118 Human

Future

of

V

Machinery

V

Elastin-Binding 54

in

Region

and

to

Elastolytic

Work

Cathepsin

V

Cathepsin

121

Gene

and

in

L

Localization

Cathepsin

Activity

V

L

Site

in

V

viii

iii

vi

ix

23 10 12 23 14 25 27 18 ii 28 29 18 30

19 55

57

64 V

111

3

3 1 5 8 1 1 9 9 1 APPENDIX .65

iv List

Table Table

of

2.1 2.2

Tables

Enzyme PCR

Primers

kinetics

of

mutant

of

both

cathepsins

wildtype

and

mutant

cathepsins

37 38 V List of Figures

Figure 1.1 Multiple amino acid sequence alignment between human cathepsin V. human cathepsin L and mouse cathepsin L 10

Figure 1.2 Ribbon model of human cathepsin V 11

Figure 1.3 Superposition of human cathepsin V (Purple) with human (yellow), and S (red), and the mature part of the human procathepsin L (blue) (9) 12

Figure 1.4 View of the cathepsin V with the structure of bound APC-3316 representsed as a stick model 13

Figure 2.1 A schematic diagram showing the various proportions of cathepsins V and L in mutants 39

Figure 2.2 kcat/Kmcomparison of selected mutant and wildtype cathepsins against Z-FR-MCA 40

Figure 2.3 The elastolytic activity of mutant and wildtype cathepsins using elastin-rhodamine conjugates at 120 minutes 41

Figure 2.4 The HPLC profiles of wildtype cathepsin V and Ml 42

Figure 2.5 The elastolytic activity of mutants 2, 4, 5 and wildtype cathepsins using elastin-rhodamine conjugates at 120 minutes 43

Figure 2.6 The HPLC profiles of wildtype cathepsins V, L and M5 44

Figure 2.7 The HPLC profiles of wildtype cathepsins V, L and M4 45

Figure 2.8 Multiple amino acids sequence alignment of human cathepsins K,S,VandL 46

Figure 2.9 The superposition of human cathepsins V and L 47

Figure 2.10 The elastolytic activity of mutants 8, 9 and wildtype cathepsins using elastin-rhodamine conjugates at 120 minutes 48

Figure 2.11 The HPLC profiles of wildtype cathepsins V, L and M8 49

Figure 2.12 The HPLC profiles of wildtype cathepsins V, L and M9 49

vi Figure Figure

Figure Figure

Figure

Figure

2.13

2.14

2.15 2.16

A. 2.17

1

The

elastin-rhodamine

cathepsin of The

The The The A

cathepsin schematic

Michaelis-Menten

elastolytic

HPLC HPLC

distribution

V

profiles

profiles

V

representation

activity

of

conjugates

potential

of

of

wildtype wildtype

Graph

of

mutants

of

elastin

at

for

the

cathepsin

cathepsin

120

Mutant

proposed

6,

binding

minutes

7

and

6

V, V,

wildtype

elastolytic

domains

L L

and

and

M6

M7

cathepsins

in

mechanism

human

using

vii

50

51

52 53

54 65 List of Abbreviations a.a. Amino Acids

Cat V cathepsin V

Cat L cathepsin L

EDTA ethylenediaminetetraacetic acid

HPLC High Performance Liquid Chromatography

microlitre mL millilitre

micromolar mM millimolar

PCR Polymerase Chain Reaction

Z-FR-MCA Carbobenzoxy-(Z)-Phe-Arg-Methylcoumarylamide

viii Acknowledgements

been to project. rose

extend without and comments time cloning to basis;

cloning were guidance Lavalle Kruglyak and

attempted, received learning Furthermore, which friendship especially PCR. energy

first

ensure

Raymond

suggestions

and of

given,

Throughout

nowhere

Dr.

Finally,

carried

my

to thank

doubts

and

His the

techniques,

for

and

obstacles

from

on

go

Marcio

smooth for

Summer and

gratitude and

regardless

and

help

his supports; strong

kinetics

on.

perseverance

my

I

me

Pan being

and

to

advices,

a

I

heartfelt I

friendship,

would

from

handful would

throughout

be

want these

through supervisor,

Alves

proceeding

for

depressions;

support,

were

Liu

his

to

seen,

a

study

Dr.

of

members

their

my

good

heartfelt

to like

Morgan

two

for

like

how for

encouragements. encountered

Andriy

of

a

and

thank

and

committee

help easy-going-ness

in

personable

her

major

to

his

to

years,

amazing

listener

my

Dr.

silly

research

of

use the

Dr. supports;

constant

of

mention

instruction

on

Martin

encouragements

Samokhin

my

Dieter

my

projects;

the

obstacle

it this

mouthwatering

yeast

Susan

countless

may

and

project;

people are

members:

Brömme families

manner

opportunity

both

for

attentiveness,

Brömme,

expression

the

Saadat

Wilson

be;

very

a

Moreover,

in

her on

for

and

and

wonderful

of

helps,

outside

my

advices, Alexander

Xiii

yeast

and his

much great for lab:

which

Hashamiyan the

Dr.

Dr.

and

for

research;

steak encouragement

for

to

Du

thorough

their

Dr.

and

not-so-often

suggestions, expression;

Gary

her

help

Francois

of

express

supports

appreciated.

this

for

such encouragements

aided

for

Dong

audience

subsequent

from

BrOmme

help

Geidman

undivided

in

without

Brayer,

project

and

his

a

ligation

guidance

for the

and

my

Wei

the

wonderful

when

helps

Jean,

Jie

Jadwiga

her

French

project gratitude.

whenever

warm

and

Keg;

lab:

and

for

it,

for Zhang Li

I

will

procedures;

supports would

role

the

and

I

and

for

for

his

his

comments

whenever comments

Meng will

Paul.

and

not

smile

positive

jokes;

her and in

Kaleta transformation as

for helpful

his

comments

enthusiasm

I

not

also

be a great a

helps

would

insights

insights

A.

Li

intriguing

on

facilitator insightful

and

joke

have

realized

Natasha

Vincent

for

Lythgo

like for

doubts a

during

clones

critics

that

ways.

daily

have

love,

like

was

her

her

the

on

on

to

in

in

ix

I CHAPTER

1.1 cysteine keeping cathepsins are H,

degradation Other bone

pool a 1.2 degenerate putative identified 1.2.1 Full-length calculated

search

X,

Human

expressed

Human

resorption,

Human

was

cathepsins F,

The

The

functions

for

17

L

which

whose

screened

molecular

primers.

human

and Cathepsin

cDNA

amino

or Cathepsin

cDNA

novel

either

I Cathepsin

turnover —

0

and

displayed

such

functions

to Overview

-hike

acid originally are cathepsins of

were

ubiquitously

Out

antigen for

specific

human

mass

found Family

as

V

signal

of

of

regions

V

later

K,

motifs

proteins,

the

cDNA

of

encompass

presentation

cathepsin

V, roles

in

are

found

peptide, cathepsin

and

37329

twenty

constructed

many

and

or

surrounding

that

a

and

in

family

Introduction

tissue-

activation

S

in

localized

Da are

eight

organs

a

V

Chromosomal

are

a

sequences.

papaya

96

and

characteristics

(also

(2).

whole

of

or

involved

encoding

amino

hits,

processing.

cysteine

cell-specifically.

and

The

the

of

known

parts

one

spectrum

seeds.

proenzymes,

may

conserved

acid

open

A

of

in

unique

human

a

as

proteases

Gene

propeptide

the

fuffihl more

of 334

reading In

cathepsin

ranging papain-hike

body

humans, cathepsin-like

Localization

amino

kidney

active specific

generic

and

Cathepsins

that

frame

(1).

and

hormone

L2) from

acid

Quick

resemble

site

Human

there

functions functions

cysteine

a

was

translated

221

generic

protein residues

such

fragment

Clone

identified

maturation.

are

amino

cathepsins

papain,

proteases.

as

such such

house

eleven

with

cDNA

into

B,

using

acid

was

C,

as as

in

a

a

a

1 mature peptide that contained the characteristic residues, C138, J-{277and

N301. This open reading frame was deposited in GeneBank as cathepsin V (3).

The amino acid sequence of cathepsin V is highly homologous to human cathepsin L. They share 77.5% identity for the preproenzymes and 79.5% identity for the mature proteins. Sequence identities are also shown to a lesser extend between human cathepsin V and other cathepsin members ranging from 58.6% with cathepsin K to 30.8% with . Futhermore, a comparison of the human preprocathepsins V and L with murine preprocathepsin L demonstrated that human cathepsin V, but not human cathepsin

L, is more closely related to murine cathepsin L (Fig 1.1)(2).

The chromosomal localization of the cathepsin V gene was mapped using FISH analysis and found to be on chromosome 9q22.2, a site that is adjacent to cathepsin L (3).

Both genes consist of eight exons that code for analogous regions of the cathepsins V and

L structures. Moreover, the fact that cathepsin V shares almost 80% identity to cathepsin

L suggests their recent evolution by gene duplication from an ancestral cathepsin-(V-L) like gene. This close homology between two cathepsin members can also be seen in other cathepsin pairs such as cathepsins W and F, and cathepsins S and K; hence hinting on the mechanisms through which diversity within a family can be achieved (5, 6).

1.2.2 Crystal Structure of Human Cathepsin V: Overall Structure, Catalytic

Machinery and Substrate Binding Pockets

1.2.2.1 Overall Structure and Catalytic Machinery

Activation of cysteine cathepsins is a crucial step in controlling the

2 proteolytic

pepsin cathepsins conditions

sequencing that with Ser-Val,

helices,

homologous sheets

splits superposition utilizes (12), peptide

to deacylation functioning depending The

159

help

are

exerts

Leu

side

K

the

resembles

treatment

Cathepsin

(13),

roughly

Cys

maintain demonstrates

suggesting bonds

114

chain

two

in

is

revealed

activities. on several

steps

as

25,

to the

indeed

and

of

of

Gin

lobes

the

the

of

the

(Fig equal

His

lysosome

or

cathepsin

the

S

with

the

V,

Gin

functions

base

(14)

papain 19,

autoactivation

preproenzyme.

that

that

a

159

R-domain

leads

deprotonated

Recent

like

combination 1.3).

structural

in

the

a

19

reveals

in

the

the

residue

and

size

stabilizes (7,

assistance

family

V other

the

to

This

first

activation

in

Asn with

(Fig

8).

studies

the

deacylation

their

catalysis.

of

homology

five

that

members

Experimentally,

catalytic

of

active at

papain 175

papain

1.2).

The of

state

the

structural

acidic

cysteine

of

amino

is

have

inter-

(papain

leads

morphology

The

stabilization

carbonyl

strictly

of

site.

These

whereas

(11),

reaction

pH of to

triad suggested

acids

His

and

domain

to

proteases.

The

the

similarity.

the

numbering)

to

a

and

conserved

include

intramolecular

159,

221-residue

oxygen

of

remove

initializes the

papain

the

papain

structure

(15). the

the

of that

of

protonating active

other

that

cathepsin

intermediate

more

mature

forming

As

consists

The

of

the

L-domain

throughout family

to

the

it

enzymes

domain, the

of

a

closely

propeptide

mature

carry

oxyanion

can

protein

process cathepsin series

activation

intermediate

an

V

of

the

be of

consists

out

ion

primarily

in

(10).

containing

can related

protein

seen cysteine

leaving

the

of

the

are

the

pair under

hole

(9).

be

V

papain

The acylation

in of Leu-Pro-Lys

oxyanion.

hydrolysis

of

obtained with

therefore

cathepsin

is that N-terminal

substrate Figure

lysosomal

amine

twisted

acidic

two

proteases,

cleft

primarily

three

Cys family.

begins

lobes

that

3,

pH

and

and

His

by

a

25 B-

of

is

in

L

a

3 both

Asn

Other protonated

solvent.

177

1.2.2.2 differentiates cathepsin arrangement

irreversible inhibitor’s benzenesulfonyl- pockets,

this The Cys whose floor and

lies

the 175

the

63

site

S2

constructed

studies

The While methyl

The ,

carbonyl

acylation

pocket

takes Additionally,

directly

respectively,

are is

V

form

rather

hPhe,

Substrate

Si

formed

of

determined show

them

the inhibitor

group

all

pocket, the

on

of

1

above

oxygen

shallow,

from

-phenethylallyl)carbamoylJ-2-phenylethyljamide) and

indirect

Phe,

His

the

that

cysteine

amino

is

by

“closes”

whereas

deacylation

the

Binding

evidence

159 other Ala

Trp

and formed

Lys His

of

using

APC-33

role

which acids

substrate

(18,

133,

Gly

177

N-methylpiperazine

159

155,

hand

proteases

the

the

in

Pockets

by

19).

that x-ray

may

66.

Gly

suggests

and

suggests

the

Asn

16 steps

sulfone wall

is

Asn

Finally,

specificity. form

160

well catalysis also

Asn

crystallographic

156,

of (4-Methylpiperazine-

along

64,

employ

and

play a

phenyl the

this

Trp

defined.

175

Leu

small

Gly

lying

the

with

substrate

by

site.

a

and

177

This

157,

23,

role

side

group residues

contribution the positioning

on

the

It

A

seems

may

Gly

the

in

Phe67,

is chain

is

unique

backbone

same

binding

methods

binds

catalysis.

situated

determined

far

65

play

to

reside

of

1

side

and

the

-carboxylic

the

catalytic

shield

feature

in

to

Met

a

pockets.

the

of

main the

of in

the

in His

role

in

The

demonstrates

68,

Cys

the

the

Si’

the these

substrate

by

the

carbonyl

of

159

indole

in

chain

while

pocket

R-domain

apparatus,

region 25

the

the

presence

The

Si,

stabilizing correctly

residues

acid (16).

S2

identity

of

ring

the

structure

S2

specificity.

oxygen is

(Fig

pocket

Asp

Finally,

that

walls Ala

and

of

[1

of

with

(17). from

what

1.4).

-[(3-

Trp

158,

and

205 the

the

the

S3

of

of of

of

4

a cathepsin

length cathepsins, cathepsins residues pocket

Furthermore,

pocket

serves chain. chain demonstrates of

might leading 59. which papain chain involved

specificity

this

Additionally,

carbonyls

and

Its

of

serve

as

site,

is

of

family.

plays

to

that

V

formed this

sides

a cathepsin

in

the a

S

of

the

and

is

potential

to spectrum

may

and

since a the

Si’

utilization

pocket

carbonyl

a

be

are

different

S2

This

also

of

major

by

K.

binding the otherwise

an

catalytic

created

pocket Asn

the

V

because

the

interesting

Due is

conservation target is

of

has

variability

carbon likely

64

shape defined

properties

side role

of

pocket

to

by

its of

and

Phe

machinery,

only

in

of

its

chain

the

bottom cathepsin

due

in

mainly

of

Gly

the

the

point

67

depth,

by

will

weakly

side

Asp the

of

to

of

associated to

difference

design

59. of

the

S2

be the defined for

determine

chain

S3 because

substrate Trp

158

the

When

which V

position among

similar

associated inhibitor

pocket

fact

and is of

177,

S2

of

rather

by

with

in

that specific comparing

of

Phe

binding

Ala

is

throughout cathepsins

the

the

the

across

Gly specificity

of the

design.

highly

residues

this

67,

136,

to

width

side positioning

Ala

narrower

three

65,

other

Arg inhibitors

pocket.

pocket

the

is

chain 205.

to

66

Finally,

conserved.

of

side

is

conserved

the

70,

papain

forming

other

cathepsins;

and

of

this

rather

When

and

papain

As

of chains and

can

of

papain-like

part

(10).

S2

cathepsins,

His

the

a

the

family longer

Gln

accommodate

obvious,

result,

this

pocket

compared

of

across Si’

that family

This

main

159,

61,

therefore

The

the

pocket

binding

than is

form

the

and

both

suggests chain

whereas

Asn

much

rather

it

(10). S3

cathepsins.

this

S3

therefore

those the

the to

binding

are

the

60

the

pocket

pocket

pocket,

of

larger

other

of

main

little,

sides

side

also

side Gly the

S2

the

the

of

5 the

addition, 1.2.3.

epithelium

suggests cathepsin

Class-Il might playing described

1.3.1. 1.3. mechanism as explained

found composed groups is

made

transcript

skin,

Elastin

Tissue

Elastin

in be Brömme

Elastin

a

are

complex

a

by

elastin

lung, role V others

as

in a

mainly role

(3,

is

enzymatically is

Degradation

cross-linking

Distribution

valuable

terms

for participating

in

compatible 20).

involved

is

in

and

et

atherosclerosis

are

had

the

human

of

in the

al.

The

of

responsible

large

extracellular

neutral

human

have

claimed

regulation entropic

diagnostic

specific in

cathepsin

with by

numerous

and

the

screened oxidized blood

in

amino

Human

thymus

degradation

elastolytic

Functions

the

the contribution.

along

and

for

of

matrix marker vessels.

classical

V

acids

expression

the

autoimmunity.

several

to

high

soluble

is

Cathepsin (21). with

form

cross-link

uniquely

protein

such

activity

expression

of

for

of

The lysosomal

In

theory

immune

Human

It

tropoelastin

invariant

a—aminoadipic

as colon

pathological has

of

elastic

that

V

glycine,

expressed

of

formation

of

also human

In

tissue-related

imparts tumors

level Cathepsin

cathepsins activated

rubber

fact,

chain

properties

been

molecules.

alanine,

of

cathepsin

as

in

circumstances,

elasticity

(Ii) where

elastic

demonstrated

(3),

acid cathepsin

Tolosa

thymus

macrophages

L,

V

that

valine

and

organs

of &—semialdehyde

K

some

recoil

The

stabilizes

and

V

elastin et

(24,

it

and

V

and

al.

in

had

lysine S and

lysine

to

in

25).

that

testis

(22,

cathepsin

pointed

the

tissues

proline,

the

as

found

have

also

the

Elastin

the

23).

E—amino

residues

cornea! thymus

well

(2).

MHC

basic

been

been (26).

such

that

out,

and

In

as

V

is

6 desmosine, Subsequently, protein

cross-linked

its conditions.

confers cross-linking elastin.

inflammatory

adequate accumulation the density

formation (the contributes of enzymes

1.3.2.

detailed

these

arteries.

innermost

Human

in Atherosclerosis

an Atherosclerosis

lipoproteins

cell

such

mammalian

removal

u—helical

of

and

To

structure

to

nature

sites

plaques.

types

through

of

response

the date,

as

Cathepsin isodesmosine

layer

macrophages.

matrix

formation

in

of

and

(35

conformation it

(HDL).

is

of

tropoelastin,

bodies

had

fats

The either

not

is

is —

extreme

in

artery)

metalloproteinases,

V generally

41).

been

a

and infiltration

known

the

in

Atherosclerosis

cross-links

(31

of disease aldol

Atherosclerosis

These

It

reported atherosclerotic walls

and

cholesterol —

hydrophobicity,

is

(34).

33). and primarily

condensation

characterized

then

subsequent

affecting

extra-cellular

of

of

However

thereby, While

are

that

promoted

macrophages

arteries.

chemically

from

and

is

due

the

its

commonly lesions.

arterial

deposition

the

further

or

cysteine

elasticity

building

to

the it

by

It

by

degrading

Schiff

its

possible

is

the

occurs

macrophages

synthesized low

and believed

Notably

insolubility

research blood

enlargement

proteases

block

has referred

reactions,

of

density

smooth

confirmation

in

been

lipids enzymes

vessels.

extra-cellular

of

is to

large

needed

(27

to

elastin,

under

are

lipoproteins

be muscle known

by

which

lysino-norleucine,

as

of —

part the

secreted

It

destroy

functional

30).

“hardening”

arterial

physiological

to

is

tropoelastin,

for

of

most

cells

leads

due

predict

Due

a

degrading

insoluble

decades,

without chronic

by

the

(SMC)

to

stable

intima

to

to

high

both

two the

the

its

the

of

7 main

degradation,

rupture abovementioned

for degradation most is

epithelium, 1.3.3. enzymes

suggests sequence cathepsin site proteases also substrates and cathepsin

associated

--‘60%

adjacent

V

potent

seems

underlying

The

are

While

Nonetheless,

of

a display

from

L V

highly identity

to Comparison

of

close

elastolytic occurs the

human

demonstrates

to

to

the

and

to

probe

the the

cathepsin

the

point

the

degradation

atherosclerotic

differing linkage blood

L

components similar

expression

total

extracellularly

papain

with

cathepsin from

cathepsin

the

cathepsin

in

activity

vessels

elastin

of specificity

and

as

the

a cathepsin V.

only

expression

family

Human

cathespin

cathepsin

Among

are

exhibit

same

of

L

L

of (22).

a

V

degradation.

are

is

locus

cathepsins

minimal

plaque. cathepsin

reported

by is arterial

a

of Cathepsin

direction.

L.

weakened,

these described

similar

ubiquitously

cathepsin

V,

patterns,

V

(2).

each

Moreover,

L-like has

elastolytic

The

three

walls,

that This

V

V,

substrate

substrate

been

Of

is

Studies cathepsin

S

as

V

the

K

cysteine

ancestor.

is cathepsins, facilitating

restricted

and

this,

the

and

and

the

mapped expressed

a

Si,

their

suggestion

activity

K

preferences

most elastins

binding

S,

Cathepsin

approximately

S2, employing

(42,

V

whereas

proteases

Furthermore,

chromosomal

to

to and

shares

potent

cathepsin

the

43).

(22).

.

thymus,

chromosome

and

pocket

S3

of

formation

These

the L

(44).

almost

Based

subsites possible elastase

a

the

responsible

remaining

library

V

Even

of

two testis,

substrate

enzymes collagens.

demonstrates

localization

on

80%

several

of

known,

and

9

thirds

divergence

their

though

of

and

at

cathepsin

amino

the 9q22.2, one

synthetic

profiling

identical

account for

cysteine

cornea!

of

Upon

where

these

third

later

acid

also

the

the

the

of

L

a

8 mode

a rendering

specific

of

catalysis

its

exosite

elastolytic

and

in

similarity

cathepsin

activity.

in

V

substrate

which

facilitates

preferences,

the

we

binding

hypothesize

of

elastin

the

presence

and

thus

of

9 ______S ______E ____T ______

112 V 33 *3 93 hCTSV - ii V St N DTlç A cN Wr4ti hCTSL P Tt 1’ L 1 II S.EQ I M N r - mCTSL I Lk[14 Vi eTfr?F H s F

02 712 82 82 102 hCTSV - MCC hCTSL ‘ rn CTSL €WE

110 Ix iX 140 1120 horsy 7 hCTSL rnCTSL Iktk

210 240 hCTSV V1 T\ V A P ü K - =L KL1fl ASSfl ‘ 1

202 270 .282 323 IiCTSV “- A N hCTSL C L IP C E UM S 93 D mCTSL 01*5 P SL S N - * t::y LVI1EiGY.’ 1) ,K iflittjI

370 336 I 310 340 hCTSV $iP -. S N — K Nfln$nItJ() SGTSL tn1L C, 1.4 RR*-oS*4&j’ I1 CTSL 1) 1. *‘W’W N

Figure 1.1 A multiple amino acid sequence alignment between human cathepsin V, human cathepsin L, and mouse cathepsin L. Dark shaded background represents identical amino acids whereas similar amino acids are light shaded, and unrelated residues have a white background. Arrowheads mark the putative cleavage sites between the signal sequence and the propregion, A17-V18, and between the pro- and the mature regions of the protease (Dl 13-LI 14). Typical for cathepsins, the second amino acid residue adjacent to the processing site of cathepsin V is aproline. (P115) (1)

10 Figure 1.2 Ribbon model of human cathepsin V (PDB code IFHO).The coil represents a—helixwhereas the arrow stands for 13—strands.The black stick molecule in the middle represents the inhibitor APC-3316. The smudge yellow portion at the bottom represents the bridge area (aa 113 to 119), and the brown region on the left is from an 89—104.

11 Figure 1.3 Superposition of human cathepsin V (Purple) with human cathepsin K (yellow), and S (red), and the mature part of the human procathepsin L (blue) (Figure Adapted from Ref 10).

12 Figure

the stick shown inhibitor

Si,

model.

as 1.4

S2

are

dotted

and

View

structurally

The

S3

of

white

pockets

three

the

lines.

hydrogen

cathepsin

homologous

of

this

It

can

protease,

bonds

V

be

binding

to

the seen

between

respectively.

P1,

that

site

P2,

with

the

main-chain

and

hPhe,

the

The

P3

structure

residues

sulfone

Phe,

atoms

and

phenyl

of

of

of

N-methylpiperazine

a

bound

the

natural

group

inhibitor

APC-33

substrate

binds

and

16

in

and

represented

the

the

moieties

Si’

are

enzyme

bound

region.

of

as

are the

13

in

a References

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17 2.1 CHAPTER turnover function thymus, (1). the Il-associated resistance numerous been as mammalian contribution Zn-dependent Necessary human along A atherosclerotic directly Chen, of studies version Introduction skin, elastin generation Among LH. solved with The Elastin cathepsin have related testis, may of to for Geidmen, lung, cross-linked this through to cathepsins highly human Elastin elastases as the invariant indicated to range

II- chapter of proteolytic cornea is matrix to plaques an and tissue’s the eleven antigen-presentable V A. the Degradation. specialized ct—helical

Manuscript from cathepsin a had and extracellular will large and formation K, series such metalloproteinase chain that Brömme molecules where be been human generic and elasticity epidermis degradation submitted blood elastolytic as Ii of S, conformation functions reported family into serine-dependent D. they cathepsin adsorption of cathepsins, housekeeping matrix The vessels of and and CLIP for (2 cLB—CLIP contribute Identification is soluble cathepsins publication. — the as such tensile largely group 4). protein 12, suggests V one (5). subsequent (6). and Its was cathepsin as and tropoelastin of in involvement functions of Similar strength bone The to owing desorption that also pancreatic of the K human several papain-like cathepsin the Potential and result imparts most expressed resorption rupture V degradation to to S thymus such is had lysosomal may potent whose Exosite is collagen, its to evident. in and V elastic an of as cysteine converting been elastin is structure. by carry and plaque leukocyte (3). protein insoluble the elastase in structure macrophages recoil Cathepsin antigen elastin found Among protease out cysteine elastin in proteases (4). degradation the the a It to (4). elastin elastases, expressed non-catalytic had that While presentation V tissues consists degradation MHC/class confers the regulating Moreover, proteases, found recently may known whose whose recent such and the its be in of 18 in manner

concerning elastin’s

conjugates counterpart,

cathepsins highly against

specificity relates of acid

2.2 lying PurUication. polymerase pPIC9 recombinant

constructs

both

Experimental

sequence

directly

While

(Invitrogen, to similar

Recombinant

these

as

cathepsins.

insolubility

the

were

a

V

characterization

such the

(Fig. human

mean

Wildtype

under human cathepsin mutant

substrates.

and

differences

substrate

mechanism

ligated

as

Procedures

2.1)

L

to CA)

In

the

in

cathepsin

cathepsin

elastin-

share

cathepsins

this commence

aqueous

Mutant

cathepsin

S2

V’s

(Fermentas,

into rendering

preferences

are

An

subsite

study,

studies

potent

78%

employed

the

Congo

responsible

amino

V

solution.

L,

X7zoI

Cat

V

we

were

demonstrated

the

identity

contributes

direct

however

elastolytic

recombinant

using

hepsins:

ON)

(8).

have

proteolysis acid Red,

and

by

constructed

fusion

This

for

peptide and

NotI determined

in

sequence

these

and

oniy

to

the their

activity,

Cloning,

information

primers of

potent

sites

the

cDNA

elastin-rhodamine,

different

the of

elatases

exhibits

substrate

majority amino

by

elastin

of

alignment

proenzyme

a

elastolytic

and

was

the

outlined

region

PCR

Expression,

could

elastin-degrading

acids

within

minimal

suggests

P.pastoris

previously

(7),

of

libraries

amplification

its

whose

has

no

sequence

in sequence,

activity

be

elastolytic

which

further

Table

shown that

elastolytic

its

elucidated

has

existence

expression

prepared

Activation

a highly

distinct against

also

with

short

1.

information

and that

activity. capabilities

using

The

the revealed

(8).

directly activity

domain due

similar

subsite human

elastin

amino

vector

yeast

PCR

Pfu

The

and

to

19 secretory and

level selected selected mutants

30°C, nitrogen extract,

at

nitrogen extract, O.D.600

subjected 4th supernatant membrane pepsin and adjusted mixture

30CC.

day

subsequently

the

of

followed

The

The

to reached

of

2% were

and activity 2%

for

base,

base,

was a-factor

clear to The

to

induction

a (Millipore,

resulted

were

concentrated

pH (w/v)

(w/v) expression tested

final

first induction

incubated 4x

cells

4x

supematant

by

6.0

4.0

against

electroporated

withdrawn

10-5%

10-5%

pheromone

inoculated

peptone,

peptone,

for concentration resuspending

His+

were

before

using

(96hrs

MA)

productivity.

through

with

the

(w/v)

(w/v)

at Mut+

yeast

again

they

glacial

to

was post

37°C,

100mM

synthetic

100mM

to

in

signal

0.5%

about

biotin,

biotin,

clones

test

into

supernatant

were

5

resuspended

fermentation.

first

the

concentrated

of

thL

acetic

and

for

P.pastoris

(vlv)

30

sequence.

Among

potassium

potassium cell

0.6

resuspended

0.5%

1%

induction). that

substrate, of

mE. enzyme

monitored

MD

acids mg/mL pellet (v/v)

methanol

carried

(vlv)

containing

which,

into

(Dextrose

GS1 The

glycerol))

Briefly,

50-fold

(Fisher

activity.

phosphate

into

phosphate

Z-FR-MCA,

methanol)).

Cells

the

(Sigma-Aldrich,

into

500

vector 15

for

the

every

50

recombinant

using

1.5

mL

were the

activity the Scientific,

using

mL clone

2%

The

followed

was

L

(pH

(pH

recombinant

24hrs

clones of

a

v/v)

of

At of

cells separated

(Alexis,

standard

that

an

then

BMGY

BMGY

BMMY 6.0),

6.0),

this

using

and

Amicon while

mutant were

NH)

by

produced

bearing

MS).

linearized

point,

grown

1.34%

1.34%

a

Switzerland) protocol

Z-FR-MCA

by

and

((1%

harvested l2brs

and

((1%

proenzyme

aliquots

The

enzymes

centrifugation

the

Ultrafiltraion

recombinant

grown

for

(w/v)

mixed (w/v) the

w/v)

incubation

w/v)

with

cells

activation

(9).

24hrs

highest

of

on

yeast were

yeast

yeast

yeast

Sad

were

until

as was with

was

the

the

20

at

a fluorogenic

to 2.5mM

centrifugation column

reached containing

linear

mutant acetate, sulphate

against further

0.5mM aliquots

cuvettes Initial Carbobenzoxy-(Z)-Phe-Arg-Methylcoumaiylamide 1.5mL

2.5mM

380

5.5

and

gradient

EDTA

Recombinant and Z-FR-MCA. rates concentrated

and

enzymes

pH

(GE

EDTA baseline.

for

EDTA and

at

450

2M

25°C

storage diafiltered

substrate

5.5,

animonium

0.5mM

Healthcare,

of

at

and

nm,

starting

ammonium

and

and

containing

in

4,000g,

methylcoumarylamide

were

Recombinant

2.5mM

at respectively. a

The

0.5mM

10-fold EDTA

2.5mM Perkin-Elmer

Cat

-80°C. in

with

with

the

eluted

hepsin

100mM sulfate

the

U.K.)

dithiothreitol.

sulfate,

major

100 0.5mM

and

100mM

using

dithiotbreitol.

cleared

dithiothreitol

protease

mutant

mM

0.5mM

and

The V,

was

sodium

280

Amicon

0.5mM fluorimeter

EDTA

Cat

sodium

sodium

washed supernatant

assay

added

nm

proteins hepsin

activity

dithiothreitol

The

substrate

acetate

EDTA

The

Ultra

and at

absorbing

buffer

acetate, acetate

activation

to

with

pH5.5.

at

L,

0.5mM

containing

fmal

were

excitation

concentrator

a

was

and

buffer,

hydrolysis

and

contained

Substrate

final 100

buffer,

pH

solution

and

The

loaded peaks, eluted

0.5mM

was

Mutant

dithiotbreitol.

mM

5.0,

concentration

ending

pH

fractions

and

active

stopped

pH

containing

from

as

on sodium

100mM were (Millipore,

was

dithiothreitol 5.5,

and

emission

5.5,

Cat

monitored

an

with

site

the

hepsins divided

supplemented

by

were

monitored

supplemented

n-butyl

Enzyme

The

acetate,

100 sodiuam

bringing

concentration

colunin

2M

wavelengths of

combined

MA)

recombinant

mM

ammonium into Assay

until

2M. by

Sepharose

Kinetics.

pH

to

using

in activity sodium the

acetate,

lOOuL

A280

After

about

with

with

with

5.0,

1cm

pH

and

21

of

of

a the purified

measured. cathepsins

concentrations: Z-FR-MCA. assay

The remnant with thus

Km intercept

The appropriate using buffer Appendix to

(EMD, Conjugates

appropriate

incubate

of

diluted titration

suggesting

diluted

buffer,

nonlinear

recombinant

to

Elastin

cathepsins

Germany)

initial

which

construct

for

The

(5

cathepsins

and

dilutions

and

with

cathepsins The was

iL)

detail

range

range

100

Degradation

represents activity

the

HPLC

incubated

regression

selected

commenced were

either

(final

was

a

wildtype concentration on

j.iM,

Michaelis-Menten

of

were

of

were

processing

Degradation determined

diluted

inhibitor

would

and

concentration

E-64

10

elastin-congo

range

the

for

made

mixed

program

iM

assay

Assay

and

concentration

an

was

with

appropriately

then

then

and

hour concentrations.

on

mutant

a

of

with

by

buffer pre-determined Michaelis-Menten

the

Profile.

Using

cathepsin

consisted

cathepsins

be

1

Prism

at E-64

1

FM),

representation

different

red

abovementioned Omg/mL)

plotted

25°C

cathepsins

in

Elastin-Congo

titration.

(Sigma-Aldrich,

of

to

20

and

the

The

before

of

active

E-64

obtain

to

jiL

concentrations on

Briefly,

10

same initial

and

cathepsins

achieve

by

of to

a

were

needed

A

testing

site.

graph).

of

assay

spreadsheet

mixing

the 12

diluted

pretest

fashion

rates

cathepsins

concentrations portions

points

determined

The

Red

kinetics

appropriate

for

to

buffer

MS)

were

against

cathepsins

kinetics

20

was

achieve

of

remnant

and

as

of

Z-FR-MCA

of

iL

or

to E-64 diluted

in

in

done

which

constants

purified Elastin-Rhodamine

Z-FR-MCA

by

MaxQ elastin-rhodamine determine

the of

constant

initial

100%

of activity

concentrations.

first

E-64

the

and

was

pre-test.

appropriately

E-64

5000

following: aliquot

to

inhibition

40

and activities.

(Refer

analyzed

(various

kcat

against

isolate

the

mixed

p.L

were

assay

floor

The

and

of

of

x 22

to shaker at activity precipitate

speed appropriate

(Molecular measurements neck 570

elastin MaxQ500

The and for column

resulted acid 2.3 2.3.1

efforts

time

analysis.

Results

the

supernatant

nm

elastin

and

Initial

at on

(EPC,

points

In was focused

(Phenomenex, mixture

spectra

37°C

and a

ending

order

floor

undigested

Devices,

plates also

was

bench-top

Approach

The

MS)

0’,

at

were

590

shaker were

to

on

was was

200

recorded

carried

degraded

30’,

with

identif’

(final

for

dividing

carried

CA)

nm

rpm

injected

centrifuged analyzed

60’,

CA) at

particles

accuSpin

to 90%

O.D.490

out

concentration

37°C or

using

(Geneq

at the

the

90’

fragments

and

out fluorescence

as

the

the

acetonitrile

into

Identification

structural with

at

and

follow.

eluted

in

measurement of

Gemini cathepsin same

at

200 mc,

Microcentrifuge

System

triplicates.

the

120’

elastin-conjugates. top

rpm were

QC).

time

with

Diluted

of

32

speed

region

and

measurement

plate

supplemented

Karat for

1 Gold

V

loaded

Omg/mL) Samples

points.

a

of mixed

linear

sequence

1

The

to

using

8hrs.

cathepsins

responsible

Elastin-Binding

Detector

reader

program

precipitate

onto

machine

HPLC

The

gradient

with

of

The

and

Vmax

reaction

with

Supernatants

a into samples

(Molecular

with

reaction

HPLC E-64 (Beckman

reversed

assay

were

degradation

for

Kinetic

excitation

undigested

four starting

(Fisher

0.1%

elastin

to

mixture

mixed

buffer,

were (Beckman

Site

was roughly

stop

phase

Coulter,

trifluoric Microplate with

Device,

Scientific,

in

were

degradation,

centrifuged

stopped

and

the

with profile

and

were

elastin

Cathepsin

C-

0.1%

equal

reaction.

absorption

Coulter,

loaded

18

incubated

bovine

CA).

withdrawn

CA).

with of

acid.

analytical

particles.

trifluoric

NH)

regions.

Reader

bovine

at

initial

V

E-64,

neck unto

The

CA)

The top

All

to

of

23

in corresponding Since

M2 cathepsin boundary

half and until

confirmed

fluorogenic

in site L,

V. carried demonstrate potent elastolytic cathespin and same

the

is

In

and

the

as

of

responsible L,

a.a.

range

level it other

depicted

elastin The

cathepsin

rest We

M3,

out

cathepsin

is

V

of

V.

with

171

hypothesized

activity

from

with

to known

words, substrate,

of

catalytic

the were

using It

elastolytic

regions

degrading

observe

the

can

automated while

by

divided

wildtype cathepsin

for

(a.a.

constructed

parent

the

be the V

that

elastin-rhodamine

of

binding

activity

Z-Phe-Arg-MCA. of

the

seen specificity

clearly

121

for

chimeric

both

regions

that activity. cathepsin activity. cathepsin

cathepsins

sequence

cathepsin

loss

rest

V.

to

that

wildtype of

an

220). with

M2

of

exhibits

of

being

Ml,

elastin

mentioned

exosite

mutant

constant,

M2

the

elastolytic contains

Evaluation

standard

L

L Finally,

analysis

V

in

L.

based

and

chimera

and

demonstrates cathepsin

thus and

comparison

as

present When

roughly

that

All

M3,

L.

a roughly kcat/Km

above.

mutant on rendering cloning

M3

to

three

activity.

contains

substrate.

comparing

of

sequence

on contain

proteins

in

contains

5-times

V.

the

obtained

the

cathepsin

Ml constructs

half to

protocols

cathepsins

only

All

Three

M2

the the

other

mutants’

has

the

of

Figure

was

alignment

the

three

elastolytic

potential

and

more the

cathepsin

correct a.a.

a

(Fig.

hand,

mutant

V,

minor

possessed

fragment

using tested

two

M3,

1

but

based

mutant

2.3

activity

elastolytic 2.2).

to

perform

sequences.

wildtype

demonstrates

absent

exosite were

54 primers

vectors,

L

elastolytic

using activity

shows

The

on

(a.a.

from

from

functional

constructs

substituted

against

the

from

activities

in

sequence

the

1

spanning

cathepsins

activity cathepsin namely

the

of cathepsin

to

roughly

activity

cathepsin cathepsin

synthetic

121)

activity,

the

residual

elastin

active

were

were

most

Ml,

into

and

will

was

the

the

L,

24

of L

V rhodamine.

activity experimental

mutant’s

cleavage be

elastin elastin cathepsin reversed

profiles fragments, mechanisms

other. wildtype responsible

2.3.2

two amino

M5

compared

more

was

Dissection

followed in Moreover, The

acid

Further

when

between

elastolytic

sites

the

phase

cathepsin

V

created

primers

and

Furthermore,

residues

same

for

error

while same

using

and

in compared

the

the

dissection

by

c-i

elastin.

in cathepsin

observation

Mi of while

fashion

intensity

were

based elastolytic

HPLC

fluorogenic

degrading

ability,

Region

L. 8

responsible

cathepsin

column.

obtained

These

In to

designed:

the

while

analysis

on of

as

V

it

other

wildtype

from

represents

the does

wildtype, amount

and

activity

both

elastin

data was

V.

elastin it

The

for

by

54-121

words,

Amino

can

Mi

not

was

M4

also

the indicate

structure

running

cathepsin

peaks

as

of in

be

suggests provide

the conjugates.

carried elastin

divides

formation

cathepsin

obtained the

the

amino

fluorescent

Acid

seen

quantity

correspond

mechanism

that

peaks

degraded

degradation

any analysis

that

out.

54

they

the

V,

acid

the

of

to

from V.

information Hence,

the

region

Figure

of Mi

in

both

the

region 121

rhodamine

amino

fragments.

both

activity

displays

and

putative fragments

HPLC

of

to

in

employ

2.4 further

to

against

elastin

Cathepsin

profiles

was

different

acid

sequence ensure

shows

regarding

actually

profiles

carried an

exosite.

A certainly

similar,

into

unlabeled

sequence

degradation

of

comparison

increased

the

almost

the

sizes

two

elastin

V

alignment.

lies

mutant

out

of HPLC

the

For

if

points

segments,

M2,

not

overlap

of

to

close

54 bovine

locations

this

elastolytic

through

zoom could

profile

degraded

identical,

of degrades —

M3

purpose,

to

to

HPLC

121

Upon

neck

each

the the

into

not

and

and

of

of

25

is

a examining

This is

M4 119 conjugate. (Fig. elastolytic compared

specific majority The M4

the

by from suggests other, resulting 2.6).

demonstrates

therefore

M5

even

region

of

parental

result

region

2.2).

This

a.a.

few

The

cathepsin

to Although

bridge

displays

of

a

HPLC

to

89

the

activity

M4,

suggests

in

The

peaks (a.a.

further

potentially

partial defmes expressed

the

M2,

cathepsin

to

crystal

such

full

area,

while

elastolyic

89 wildtype’s

113.

analysis,

V

are

has

the

an

when

confirms

to

or

the

the

elastolytic

lies

is

incomplete exceptionally

either

After containing the

bridge structure

113)

mutant

incomplete

interesting.

only

bottom

involvement

V’s

directly

compared

cathepsin

activity

it

for

missing elastolytic

subjecting

able

can

elastolytic

that

region

cathepsins

the

of

of

activity

be

portion

to

under

a one

cathepsin

remaining digestion

mechanism

of

to

recover

L high

seen

compromised

or

is

of

both sequence

wildtype

of

activity

certainly

bovine

shown

the

its

activity,

value the that from

was

M4

mutants

bridge S2

60%

V

entrances

elastolytic

while

pattern.

and

cathepsin in expected

neck (11),

of might sub

and

cathepsin

till

significant

of

lower

its

specificity M5

region

binding site

112

both

the

the

was

it

elastin

inability

be

both

can

that

On and

elastin

and intensity

participation

activity.

L

profiles

to

assessed

employed

V.

(a.a.

until

be

lead

mechanism

exhibit

forms

thus the

fragments

in

employ

On

constant

seen

to

degrading

112

retaining

amino

to

the

contains

other

in

are

recover

a with

the

that

to functional

the

other

bridge-like due

highly

of

a

118)

against

active

acid

degraded

profile amino

might

hand,

elastin-rhodamine

complete

residues

to a

activity

the

hand,

the

vast

in

89,

similar

loss

site

cathepsin

retaining

Z-FR-MCA

active

full acid

be

of

M4

retains

amount

M5,

structure.

overnight

of

cleft

(Fig

from

M5

in

binding activity

to

112

region

which

when

sites;

effect

(Fig.

each

and 2.4).

full

the

the

V

to

26

of mechanism profile to

assay pertaining thus

2.3.3

cathepsin between further binding that

This deletion directly rather, outward characteristic the the and

M5,

entrance

involvement

generating

possibly

there

trend

A

and

of

there

As

it

Parallel

characterize

domain.

followed

connecting

whereas

cathepsin

appears M4

V’s full

HPLC

it is

is

resembling

were

into

has

creating

however a

suggested

small

elastolytic

elastolytic

a

proline

Approach

In

slightly

of

been

the that profiles,

such

still

by

L

another,

size,

glycine

to

this

active

a

either the

and

few

orientation not

a shown

that lysine

residue that

activity, different the

glycine

lysine

region.

activity,

observed

it

peaks cathepsin

to

site

an

even 118 sequence

used

lysine

can

Probe

that residue.

antenna

cleft followed

side

in

residue

that

other

be though

degradation

of by

In

retaining

the

that

cathepsin

in

the

inferred

the

for chain

V

one the are

alignment

cathepsin residues

Due

next

for

follows

to

lysine

elastin.

Bridge

which

fewer

missing

wildtype by

instance,

elastin

further is

to

round the

either

pointing

V that

pattern.

proline’s

side

discrepancies

must

the

lies

in

Region To

of

bridge

L

(Fig.

binding

while

assess

orienting

cathepsins

as glycine

cathepsin of

chain

test

ahead

a

the

have

the

negatively

inward

mutations

2.7).

region this

unique

both

bridge

is

proline its

aided

while

of

seems

not

hypothesis,

Combining

the

were

role

a

V

regions

(Fig.

S,

recovers

lysine

observed

in

structure

opening

region

subsequent

(Fig.

K,

were

charged

in

to

as

the seen

2.9).

and

the

orient

a

residue

are

binding

2.5).

mainly

when

potential

glycine

both

V was

bridge

the

It

up

in

and

significant

amino

demonstrated

thus

its

cathepsin

the

The lysine

majority

the

exchanged

compared

(Fig.

side

glycine

of

region

made

width suggests

118

elastin HPLC

elastin

elastin

acid

chain

away

2.8).

was

in

of 27

to

L;

of

is

is

a deleted from cathepsin V while an extra glycine residue was inserted in between proline

116 and lysine 117 in cathepsin L.

2.3.3.1 Bridge Exchange Between Cathepsins V And L

The results obtained from M4 and M5 suggests that the bridge is directly involved in retaining approximately 60% of the wildtype elastolytic activity in cathepsin V. It was thus designed to mutually swap the residues VDIPK (amino acids 113 — 117) in cathepsin

L with residues TVVAPGK (amino acids 113 — 119) from cathepsin V to assess its effect in either creating or diminishing the elastolytic activity, respectively. The mutants were cloned and expressed using standard protocol. The kinetics analysis on both mutants against synthetic substrate Z-FR-MCA was carried out, and the resulted kt/Km values suggest the proper formation of active site and retention of subsites preferences found in their corresponding wildtype cathepsins. Mutant cathepsin V bearing the residues VDIPK from cathepsin L (M8) was assayed against elastin-rhodamine. The swapping of the bridge area seemed to contribute to a 60% loss of elastolytic activity (Fig. 2.10), and to alter the degrading pattern as is evident from the HPLC profile (Fig. 2.11). Several characteristic elastin fragments seen in the profile of cathepsin V are not found in that of

M8 which suggests incomplete degradation. On the other hand, however, mutant cathepsin L carrying residues TVVAPGK of cathepsin V (M9) did not seem to reflect the mirror-image effect one would expect. The introduced bridge region in M9 was unable to generate any significant increase in elastolytic activity as the amount of fluorescence generated by rhodamine upon cleavage was comparable to the result obtained from degradation by wildtype cathepsin L (Fig. 2.10). Upon examining the M9’s HPLC profile

28 on the degraded elastin fragments however, it can be seen that while most of the characteristic peaks seen in cathepsin L’s degradation profile were not observed, a characteristic peak resembling one from cathepsin V’s profile was found (Fig. 2.12). So even though no observable elastolytic activity was concluded through this mutation, pattern of elastin degradation was certainly altered which supports the region’s involvement in elastin degradation.

2.3.3.2 Glycine 118’s Involvement In Elastolytic Activity

In parallel to the bridge exchange, the effect of glycine 118 was evaluated, and two mutants were created. M6 contains a single glycine 118 deletion from the wildtype cathepsin V, and M7, serving as the counterpart in this assessment, carries a glycine insertion in between proline 116 and lysine 117 in cathepsin L. Both mutants’ activities against Z-FR-MCA were assessed and kinetics study was carried out; both results suggested the retention of parental wildtype cathepsins’ specificity constant (Fig. 2.2).

Further elastin degradation assay showed the same trend found in M8 and M9. Glycine deleted M6 demonstrated a 25% decrease in elastolytic activity (Fig. 2.13), and the HPLC profile generated indicates a slight change in the size of fragments obtained (Fig. 2.14).

These results pointed toward the involvement of glycine 118 in elastin degradation; however, the expected effect of glycine insertion was not manifested in the case of M7.

The elastin degradation assay by M7 using elastin-rhodarnine demonstrated that inserting

a glycine is not sufficient to restore the activity (Fig. 2.15). This is compatible with results obtained from M9; since swapping of the bridge region did not restore any

elastolytic activity, glycine insertion should not as well. Furthermore, much like the

29 bovine

effect inserted

2.4

of has reported

presentable invariant V

known While mammalian comparison other preferences raise specificity elastolytic for

has

cathepsin

Discussion

the

been

the

brought

also hand,

there

The

neck high

Nonetheless,

certainly

about

that chain

question

described

been

activity

amino profiling

to

of are

elastolytic xl3

L,

elastin

only

elastase

by

cathepsin

other

both

its

—CLIP

Ii

and

a

solved

altered

the

into

growing

acid

what demonstrated

elastolytic

observed

has

human

also

enzymes

as

one

bridge

studies

CLIP

complexes

activity

sequence

to-date, (11),

been

a

structural

the

V

potential

pointed

major

number

cathepsins

is

and

region

local

and

to

found

on

was

activity.

involved

of

the therefore

of

its its

protease

a

various

conformation in cathepsin toward

found

difference

concern of

of

minor cathepsin

active

in

human structural

elastolytic reports

cathepsin

V

testis,

Cathepsin

to in

and

the

suggesting human

sites

in

elastolytic

that

be

thymus V.

the

on

cornea,

L

between

V

involvement

corneal

the

difference

are

and

of

lies

V.

cathepsin’s bears

conversion

activity

cathepsins

highest

that

the

highly

V

(3).

sub-pockets

in

and

its

approximately

activity.

epithelium

is cathepsins area

this

degradation

The

role

but thymus

described

(4).

similar

of

against study

(Fig.

function

crystal

of

in

reported not

that Human

the

Furthermore,

MHC/class

were

2.16).

is

to (9,

V

(8).

(2).

region

generation

profile

how structure

elastin-conjugate

the

and

as

and

80%

12,

thoroughly

These

cathepsin

Moreover,

that

the

difference

to

2).

L

structure,

identity as

of

is

contribute

the

TI-associated

Cathepsin

most

observations

of

the

M7

responsible

a

of

cathepsin

L,

substrate

substrate

antigen-

studied.

glycine

against

to

it

potent

on

less

in

was

that

the

the

the

30

V

in

is enzyme’s protease activity in general. This question can be answered with the kinetic behaviors of the mutants. First, both cathepsins V and L employ an identical to carry out the proteolysis. While cathepsins V and L have different turnover rates, the of all mutants are compatible with their parental cathepsins. So, a mutant enzyme behaves more like either one of the parental cathepsins when the proportion of that parental cathepsin becomes greater. However, the elastolytic activity observed is independent of such trend in enzyme kinetics. When comparing the kcat/Km value of MS with wildtype cathepsin L against synthetic Z-Phe-Arg-MCA, M5 and cathepsin L demonstrate comparable specificity constants (Fig 2.2). However, their elastolytic activities against elastin-rhodamine display a 2-folds difference (Fig 2.5). This suggests that while the mutant may behave like wildtype cathepsin L, the added region from cathepsin V has “created” the elastolytic activity. This independence of elastolytic activity to the enzyme’s protease activity can also be seen when comparing M5 and M3 where they clearly behave similarly in the Z-Phe-Arg-MCA hydrolysis, but differ greatly in their elastolytic activity (Fig 2.2, 2.3 and 2.5). This observation supports our original hypothesis that an elastin binding domain must exist to render cathepsin V its elastin degrading activity. Furthermore, it has been reported that human cathepsin L demonstrates potent activity against soluble ETNA-elastin but displays minimal adsorption to insoluble elastin (7). This fmding is compatible with our hypothesis in that human cathepsin L must lack the elastin binding domain thereby is unable to adsorb to and degrade polymerized elastin efficiently. Moreover, human cathepsin L’s lack of an elastin binding domain and its potent elastolytic activity against soluble elastin also helps

31 distinguishing the insoluble elastin degrading ability of cathepsin V as a structure related phenomenon but less as a general protease activity issue.

The investigation on elastolytic activity has not been an easy task mainly due to elastin’s insolubility in aqueous phase, and its random pattern of linking and cross- linking of tropoelastins. As a result, one cannot predict the overall structure of the polymerized elastin; and for this reason, elastolytic activity of enzymes are assayed either using fluorogenic or chromogenic elastin conjugates or by labeling degraded elastin fragments with fluorogenic chemicals such as fluorescamine. In this study, we set out to pinpoint the potential elastin binding domain in human cathepsin V by cloning chimeric mutants and mutants involving point-mutation and region swapping. Our sequential analysis has pinpointed the potential elastin binding domain to amino acids 89 to 119 in cathepsin V with the TVVAPGK (amino acids 113 — 119) region contributing most to the elastolytic activity found in cathepsin V (Fig. 2.16). The TVVAPGK domain which resembles a bridge-like structure is located beneath the S2 subsite pocket. Being located right at the entrance leading to the active site cleft, it is tempting to speculate that the bridge directs the bound elastin directly into the cleft where the active site residues could carry out the cleavage reaction. We assessed the importance of this domain by mutually swapping this domain between human cathepsins V and L, designated M8 and M9. It was clearly seen that without the bridge domain, M8 lost 50’—60%of its elastolytic activity whereas switching the bridge domain to cathepsin L did not rescue any noticeable elastolytic activity (Fig. 2.10). The inability to generate elastolytic activity in cathepsin L led us to consider the involvement of other domain; however, the decrease in elastolytic activity found in M8 indicated that the TVVAGPK domain played a role in elastin

32 degradation. Furthermore, this domain is also interesting because the extending arms of lysine residue 119 pointing away from the active site cleft (Fig. 2.9) may service two possible purposes. First, the lysine side chain may act as an antenna that inserts into and hold the elastin in place; secondly, its orientation may also clear up the “passage way” leading to the active site. The opposite is observed in human cathepsin L where the side chain of 7lysine” is oriented inwardly facing the active site cleft. This configuration may have contributed to the inability of cathepsin L to bind to elastin molecule. From the overlay of the bridge domains and sequence alignment of human cathepsins V and L, it was found that a glycine residue immediately following a proline residue is present in cathepsin V but not L. Due to the unique structure of proline and the size of glycine, such arrangement may have resulted in the orientation of the succeeding lysine. So, a glycine deletion and insertion was carried out in cathepsins V and L, respectively, and designated as M6 and M7 mutants to evaluate the impact of such arrangement. It was found that the deleted glycine correlates with a 25% decrease in cathepsin V’s elastolytic activity (Fig.

2.13) suggesting its potential role in elastin degradation. On the other hand, while inserting a glycine residue into cathepsin L did not generate an increase in elastolytic activity, the HPLC profile of elastin degradation by M7 revealed a elastin degradation pattern that differs from that of wildtype cathepsin L and resembles that of wildtype cathepsin V (Fig. 2.15). Taken together, even though no information concerning the mechanism employed by these mutants during elastin degradation could be inferred, the participation of the TVVAPGK domain and of the glycine residue in the reaction was evident. Other residues that may play a role in elastin degradation are found within amino acid 92 to 104 (Fig. 2.8 and 2.16). Residues that differ between cathepsin V and L within

33 that

elastins

cathespin serve explore nonproductive degradation

form enzyme was adsorptionldesorption

been potent is demonstrate

catalytic compatible that However, cathepsin elastolytic adsorptionldesorption

an

region

noted

since

shown

a

as

interaction

It

catalytically

elastolytic

are

the

may

a

step

L

had

that

elastin potential

if

activity

L consisted

involvement

show

with

through

would

to

high

either

that

(4). manner,

such should

demonstrate

been

such

more

elastolytic

is between

is

activity.

after not

remain

adsorption

Therefore

productive

the binding

mainly

the

mainly

reported

option

proceeds

commence

be

favor

and

neutral

following

of

swapping

case,

contributed

this

adsorbed

cathepsin

high the

The

consisted

of

activity

as

patch

such

how

step

region

that neutral

adsorbed only complex.

one in

amino

degrading

result

rapid

steps: spontaneously

the

interaction.

whereas

was

do

minimal cathepsins

on

if

may

L in

of

potential

amino

acids

to such

we

reported

the

not

cycle.

elastin first

and

enzyme

neutral

Upon

its

consider

activity

explain

surface

observed

the

speculation

in

the

elastin

the

acids,

lack

One

It

degradation.

cleavage

cathepsin elastin-binding

charged K,

amino enzyme

from

then

is

elastin and

against would of

of

the

therefore a

S degradation

in that

neutral

elastin

rapidly interacts

a

our

and

inability cathepsin

acids,

is

and

residues

adsorbs molecule,

strong

however V

true.

the

soluble

laboratory

L

than

surface

or

release

of

thus

as

may domain? with

inability

Because

dissociates

was

elastin-binding great

to

to

L

well

in

in

elastin,

possibly

expect

probably

rescue

elastin

then

other

of

the

of

observed

proceed

cathepsin

interest

however

thus

the

the

It

cathepsin

same

the

to

elastin

if

cathepsin

can

molecule

region

cathepsin

from

products,

possessing producing there

because

detect

subsequent

in for

to

region

be

L.

was

it

domain.

sites

further

elastin

human would

indeed argued

L Since

(7).

L

in

had

any

the

L’s the

not

of

to 34

to

It

a

a

a possess

surface hydrophobic including

is elastin allow

other elastin-binding L, weaken binding elastolytic tropoelastins

“pods” domains make to elastin adsorptionldesorption cathepsin facilitated cathepsin

negative

demonstrated elastin,

hand,

strong

perfect is

binding of

only with

elastin

domains

relatively

on

the

tropoelastins

V

by

as

V

cathepsin in

activity

different

adsorption interaction

a

adsorbs substrate

neutral

the

are

well

extended

mechanistic

few

“dives”

domain,

binding.

by

compromised

insertion

in

vastly

large

cathepsin localized

as

cathepsin

can

electrostatic

V,

on

facets

model

binding

elastin

and

of

hence

with regions

after comparing

into

the

Upon

cross-linked

be

the

into

is

sense

to

surface

negatively

proposed

elastin.

V

swapping

so

interaction

explained

the enzyme the region

involve V

and

more

elastolytic

may

of

much

are

potential.

observed

for

the

to

gaps

subsequent

of

However,

involve

is

considerations,

cathepsin

not

cathepsin

to

to

larger in

in surface

of

mostly

elastin

charged

the

as found another

between each a

the

adjacent

activity

lack

three-dimensional

Human

in surface

well.

the

bridge-region

neutral

fastening

in

including

the

L,

size other,

on

patches

of

V

following

study

a

the

electrostatic

to increased

because the

Since

non-catalytically to

in

tropoelastins.

cathepsin

of

the

negative

thereby

each

may comparison

possess

(7), neutral elastin

on

of

the

fact

elastin,

E-amino

(TVVAPGK)

an steps. other

its

possess

the

elastolytic active

potentially

interaction that

in

overall surface

V

surface

patches

multiple potential

introduced

spite

has but

First,

to

two

So,

being

site

side

multiple

cathepsin

productive

still

been

putative potential

of

while

potential

in

activity.

weakly

cleft

combining

chain

of

elastin-binding facilitating

the

with with

the

polymers

contribute

cathepsin

region reported

introduced its

(9).

extending

cathepsin

region elastin

of

V,

model

may

charged

surface

manner

On

elastin

lysi

it

Since

may

will

the

not

the

the

to

35

19

of to

as

of L of neutral amino

presentable for such perhaps (3). regular the

approaches

inhibitor

first

Therefore,

as

acids

The

active

functions

through

step.

atherosclerosis

to

cd3—CLIP

identification

design.

91

site

As

develop

the

to

interruption

cleft the

might

design

104,

Cathepsin

mechanistic

complexes

where

elastolytic

be

followed

(4);

of

of

beneficial.

elastin-binding

a

the

however,

of

specific

V

in

catalytic

elastin

activity-specific

was

information

by

immune

found the

Identifying

inhibitor

its

binding

step

spontaneous

involvement

system

domains

to

takes

of

degrade

that

while

elastin

inhibitor

the

suggests

place

will

in

elastin

docking

elastin

still

cathepsin

degradation

in

diminish

(Fig.

will

its

allowing

the

binding

in

2.17).

eventually

important

of

pathological generation

V

its

tropoelastin

might slowly

domains elastolytic

it

to

role

be

carry

be

unfolds,

of

realized.

conditions

in

exploited

is

antigen- into

humans

activity

simply

out

the

the

its

36 Table 2.1

PCR Primers for mutant cathepsins A compilation of all primers used in constructing mutant cathepsins. PCR reactions were carried out using a standard protocol. The melting temperature was 95°C, annealing temperatures vary according to the individual primers and the extension temperature was 72°C. An initial 5 minutes heat-start and final 8 minute extension step was also applied. Mutant Annealing Cathepsins Primer Sequences Mutation Ternperatu re (°C) Mutanti CatL:aalto54 Forward 5’ -CAC TGA GCG AGC AGA ATC TGG- 3’ Cat V: aa 47 to 57.9 Reverse 5’ -CCA GAT TCT GCT CAC TCA GTG- 3’ 221 57.9 Mutant2 CatL:aaltol27 Forward 5’- GGA GAA GGC CCT GAT GAA AGC AG -3’ Cat V: aa 119 to 60.0 Reverse 5’ —CTGCCT TCA TCA GGG CCT TCT CC- 3’ 220 60.0 Mutant 3 CatL: aalto 171 Forward 5’ -GAT CAT GGT GT1’CTG GTG OTT GG- 3’ CatV: aa 163 to 58.1 Reverse 5’ -CCA ACC ACC AGC ACA CCA TGA TC- 3’ 220 58.1 Mutant4 CatL:aalto9O Forward 5’ -GGC CTG GAC TCT GAG GAA TCC TAT CC- 3’ Cat V: aa 82 to 60.1 Reverse 5’ -GGA TAG GAT TCC TCA GAG TCC AGG CC- 3’ 221 60.1 Mutant5 CatL:aaltoll2 Forward 5’ -TCT GTT GCT AAT GAC ACC GGC TTT- 3’ Cat V: aa 105 to 59.0 Reverse 5’ -AAA 0CC GOT GTC ATT AGC AAC AGA- 3’ 221 59.0 Mutant 6 Forward 5’ - ACA GTG GTC GCA CCT AAG GAG -3’ Cat V 18gly’ 58.9 Reverse 5’ - CTC Cr1’ AGG TGC GAC CAC TGT -3’ Knock-out 58.9 Mutant 7 Cat L glycine Forward 5’- GTG GAC ATC CCT GGA AAG CA -3’ Insertion between 57.4 Reverse 5’—TO CTT TCC AGO GAT GTC CAC —3’ 6Pro” and 7Lys” 57.4 Flanking Primers Forward 5’-GAC TGG TEC CAA HG ACA AGC-3’ N/A 54.3 Reverse 5’-GCA AAT GGC AH CTG ACA TCC-3’ 54.8

37 Table The The regression condition CathepsinV Enzyme Ml M2 M8 M6 M4 M5 M3 M7 M9 CathepsinL k0, enzyme 2.2 and outline algorithm. Km kinetics value under of of The “experimental both each substrate kcag(sec) wildtype enzyme 25.18 26.82 24.92 24.76 18.19 11.24 16.18 17.72 11.57 23.5 7.72 procedure”. used was and Enzyme mutant calculated was ±0.83 ±0.24 ±0.48 ±0.86 ±1.43 ±0.35 ±0.03 ±0.42 ±0.86 ±2.37 ±0.1 the Kinetics cathepsins. synthetic using Km(.tM) GraphPad 11.45 11.20 7.04 3.00 3.12 2.54 8.29 2.00 1.15 1.89 1.33 fluorogenic Prism ±0.08 ±0.83 +0.29 ±0.99 ±1.56 ±1.54 ±0.07 ±0.20 ±0.22 ±0.12 ±0.33 substrate program kcag/Km through Z-FR-MCA 2.20±0.07x 2.58 2.17±0.31x 3.24±0.lOx 5.91 7.54±0.02x 3.86 6.36 1.00±0.04x 8.72± 1.31 (M ± ±0.48x ± ± + sec’) 0.03 0.17 0.45 0.01 1.78x non-linear x x x x using 106 106 10 lO 106 106 106 106 106 i07

38 Residual Elastase Activity L69 Cf5 162H1 187N1 Cat L —27%

Mutant I 5r”______—120% I — — — — • 89_ — Mutant 4 —100%

113_ Mutant 5 1x —60%

Mutant 6 —75%

Mutant 7 .1. —20%

Mutant 8 .f —50%

C25 P69 H163 N188 100% Cat V

Figure 2.1 A schematic diagram showing the various proportions of cathepsins V and L in mutants. Both cathepsins L (blue) and V (red) have their catalytic units marked and named in red. The only difference to their S2 subsite is also marked and identified in black. (Leucine in cathepsin L and proline in cathepsin V). The box indicates regions that were shown to be responsible for any elastolytic activity. A cross-mark (x) in Mutant 6 indicates 8glycine” deletion and a plus sign (+) in Mutant 7 represents a glycine addition.

39 mixed kinetics representation Figure Appropriate 0 0 with 2.2

constants.

O.OOE+OO

5.OOE+06

2.OOE+07 2.50E+07

1.50E+07 1.OOE+07 The dilution different of kcatlKm cathepsins All was - - - values concentrations comparison made are

which CatV on derived cathepsins was of of from analyzed Z-FR-MCA

selected

M6 kcatlKm to measurements achieve using

mutant Ml

and Corn decent nonlinear and assay

of

M4 parison triplicates. initial wildtype buffer regression activity. to cathepsins construct program

The M3 diluted against a

Prism CatL Michaelis-Menton cathepsins to Z-FR-MCA. obtain were

the 40

taken

LandM3. dithiothreitol Figure

stirring

120 120

. minutes, 0

>

minutes.

in

2.3

of

triplicates.

140

120

100

40

20

60

80

The

0-

200

then

at lOmgImL ------

-

elastolytic

p115.5.

rpm

E64

Thep

in

was

Aliquots

of

activity

>0.31

activity

elastin-rhodamine

added CaV

between

of

buffer

and

of

sample

mutant

Elastin-Rhodamine

the

Cat

containing

mutants

were

V Ml

and

and

was

withdrawn

wildtype

M1;p

tested

incubated

100mM

>0.05

for

cathepsins

from

absorbance

sodiuam

at

between

37

the

°C

using

reaction

M3

Cat

with

acetate,

at

L

590

elastin-rhodamine

I

and

iM

mix

2.5mM

nm.

M2,

of

at

All

andp enzyme t

=

EDTA

measurements

L

0,

>0.08

30,

with

conjugates

and

60,

between

constant

90,

2.5mM

were

and

41

Cat at Figure 2.4 The HPLC profiles of wildtype cathepsin V and Ml. Cathepsins (final concentration 1 jiM) were mixed with bovine neck elastin (EPC, MS) (final concentration of IOmg/mL) and assay buffer, and incubated in MaxQ500 floor shaker at 37 °C at 200 rpm for l8hrs. The reaction was stopped with E-64, and the mixture was centrifuged at top speed to precipitate undigested elastin particles. The supernatant was injected into System Gold Detector (Beckman Coulter, CA) for HPLC profile. The degraded fragments were loaded onto a reversed phase C-18 analytical column (Phenomenex, CA) and eluted with a linear gradient starting with 0.1% trifluoric Acid and ending with 90% acetonitrile supplemented with 0.1% trifluoric acid. The chromatograms were analyzed with 32 Karat program. It can be seen that both profiles almost superimpose each other suggesting Ml retains all the residues needed to exercise the full elastin binding mechanism.

42 Elastin-Rhodamine

120 Cat V M4

100 -

80 - 0 60 -

40 - U, a, 20 - 0-

Figure 2.5 The elastolytic activity of mutants 2, 4, 5 and wildtype cathepsins using elastin-rhodamine conjugates at 120 minutes. lOmg/mL of elastin-rhodamine was incubated at 37 °C with 1 tM of enzyme under constant shaking of 200 rpm in activity buffer containing 100mM sodiuam acetate, 2.5mM EDTA and 2.5mM dithiothreitol at pH5.5. Aliquots of sample were withdrawn from the reaction mix at t = 0, 30, 60, 90, and 120 minutes, added with E64 and tested for absorbance at 590 nm. Enzyme activities against Z FR-MCA were also recorded at the above time points to monitor their residual activities. All measurements were taken in triplicates with standard deviation shown as error bar. While M4 retains full elastolytic activity, M5 only possesses 60% of the original elastolytic activity. However, when compared to M2, M5 which has only 8 amino acids more from cathepsin V demonstrates, a dramatic increase in elastolytic activity. P >0.96 betweenCatV and M4;p <0.02 betweenCatV and M5;andp> 0.05betweenCatL and M2.

43 M5 CatV CatL .60660IITth 0,0a?

350 90

00 302

30 250

02

* 56

156

40

ISO

30

50

lb

2 4 6 8 10 12 14 16 10 20 191MM,

Figure 2.6 The HPLC profiles of wildtype cathepsins V, L, and M5. Several peaks that can be seen from the profile of human cathepsin V are missing from the profile of M5. Also, the highest peaks that overlap each other in both profiles seem to be different in intensity. This suggests that while the bridge region is important in generating 60% of elastolytic activity, it does not provide full binding mechanism resembling one employed by wildtype human cathepsin V.

44

other might of

elastolytic Figure

M4,

peaks

be

2.7

M4

yet

involved

The

activity.

are

M4

lower

HPLC

still

in

Also,

demonstrates

for

achieving

profiles

M4.

it

CatV

can

of

a

be

wildtype

complete

to

seen

retain

that

cathepsins

binding

full

the

elastolytic

CatL

highest

mechanism,

V,

L

peaks

and

activity.

M4.

are

they

Few

almost

It

may

suggests

peaks

not

equal

are

be

that

in

missing

as

intensity

crucial

while

from

other

in

even

generating

the

residues

though

profile 45

the

between glycine region were

dots Figure

alignment

V

V K V

L K V

L V

L

S

S K

S S K L K V

L

S L K

S

CLUSTAL

Sequence

region

and

extracted

and

2.8

residue

cathepsins

those

algorithm.

highlighted

the

Multiple

W

Alignment

mature

of

(1.83)

through

in

less

L

the

amino

and

Identical

enzyme.

NKYWLVKNSWGEEWGMGGYVKMAKDRRNHCGIASAASYPTV NKHWIIKNSWGENWGNKGYILMARNKNNACGIANLASFPKM

KEYWLVKNSWGHNFGEEGYIRNARNKGNHCGIASFPSYPEI KALMKAVATVGPISVAIDAGHESFLE’YKEGIYFEPDCSSEDMDHGVLVVGYGFESTESDN

homology KALMKAVATVGPISVAt4DAGHSSFQFYKSGIYE’EPDCSSKNLDHGVLVVGYGFEGANSNN MIELHNQEYREGKHSFTMAMNAFGDMTSEEFRQVMNGFQNRKPRKG---KVFQEPLFYE

KALKRAVARVGPVSVAIDASLTSFQFYSKGVYYDESCNSDNLNHAVLAVGYGIQ-----KG GNEGCNGGLMDYAFQYVQDNGGLDSEESYPYEATEESCKYNPKYSVANDTGFVDI MIELHNGEYSQGKHGFTMANNAFGDMTNEEFRQMMGCFRNQKFRKG---KVFREPLFLD

GNQGCNGGFMARAFQYVKENGGLDSEESYPYVAVDEICKYRPENSVANDTGFTV7 MNPTLILAAFCLGIAS--ATLTFDHSLEAQWTKWKAMF{NRLYG-MNEEGWRRAVWEKNMK

SKYWLVKNSWGPEWGSNGYVKIAKDKNNHCGIATAASYPNV DVLKEAVANKGPVSVGVDARHPSFFLYRSGVYYEPSCT-QNVNHGVLVVGYGDL----NG GNKGCNGGFMTTAFQYIIDNKGIDSDASYPYKAMDLKCQYDSKYRAATCSKYTEI MNLSLVLAAFCLGIAS--AVPKFDQNLDTKWYQWKATHRRLYG-ANEEGWRRAVWEKNMK MKR---LVCVLLVCSSAVAQLHKDPTLDHF{WHLWKKTYGKQYKSKNEEAVRRLIWEKNLK

MWG---LKVLLLPVVS--FALYPEEILDTHWELWKKTHRKQYNNKVDEISRRLIWEKNLK

YISIHNLEASLGVHTYELAI4NF{LGDMTSEEVVQKMTGLKVPLSHSRSNDTLYI

-NDGCGGGYMTNAFQYVQKNRGIDSEDAYPYVGQEESCMYNPTGKAAKCRGYREI

PKSVDWRKKGYVTPVKNQKQCGSCWAFSATGALEGQMFRKTGKLVSLSEQNLVDCSRPQ—

PDSVDWREKGCVTEVKYQGSCGACWAF’SAVGALEAQLKLKTGKLVSLSAQNLVDCSTEKY

PRSVDWREKGYVTPVKNQGQCGSCWAFSATGALEGQMFRKTGRLISLSEQNLVDCSGPQ- * PDSVDYRKKGYVTPVKNQGQCGSCWAF’SSVGALEGQLKKKTGKLLNLSPQNLVDCVSE-- FVMLHNLEHSMGJ?4HSYDLGI?4NHLGDMTSEEVMSLMSSLRVPSQWQR--NITYKSNPNRI * .::*::*****

in

blue multiple *****

.* CBI

***:*:**

V

blue of

:**

acids that

.***

region.

Cathepsins database.

*

are

The resides

*

may

with sequence

*

the letters

**:**

sequence contribute ** *

*

The one ****:

::*

Pro-X-Gly-X

are The *

**

residues highlighted

*

dot.

marked

K, alignment

;** sequences **: *

:.** 5,

.*

to

All alignment

**:*****:*****:

V the

*:**:

with

amino

and shown **

:****.**. segments.

:

elastin

in

of were

:*

L

an red,

*: human

* acids

:***

in

asterisk, degrading *:*::

****.

are :*

aligned

bold

Notice

sequences the .

. cathepsins **

* and

:

first related

•. using

*:*

ability that

*

red residue ***:*:** *

.:

contain

all

the

K,

residues colour *

.

of

333 329

334 331

but

S,

Clustal

cathepsin

of

V

cathepsin the

:*

the

are

and

are pre-pro-region,

******

mature

the multiple

**

marked

L.

V.

ones

PEWEG

All

L

enzyme

possess

sequences

sequence

with

differing

pro-

232 233

292 293 235

two 290 232

288

173 115 55

175 173 114 115 57 57

173 114 57

and

46 the Figure 2.9 The superposition of human cathepsins V and L. These two structures were obtained from the RCSB Protein Data Bank with the designated number IFHO (human cathepsin V) and 1ICF (human cathepsin L). The overlay was done using PyMol program. The bridge region is represented as a stick model for both cathepsin V (yellow) and cathepsin L (red). It can be seen that the region mostly superimposes each other as it moves from left to right until proline (in white box). The lysine side chain immediately follows the proline residue in cathespin L orients inward (red arrow) while the lysine side chain in cathepsin V following the glycine (gray) residue is imposing outwardly (yellow arrow).

47 ______

Elastin-Rhodamine

140 120 cv

M8 60

40 i CatL— 20

0

Figure 2.10 The elastolytic activity of mutants 8, 9 and wildtype cathepsins using elastin-rhodamine conjugates. lOmgImL of elastin-rhodamine was incubated at 37 °C with 1 M of enzyme under constant shaking of 200 rpm in activity buffer containing 100mM sodium acetate, 2.5mM EDTA and 2.5mM dithiothreitol at pH5.5. Aliquots of sample were withdrawn from the reaction mix at t = 0, 30, 60, 90, and 120 minutes, added with E64 and tested for absorbance at 590 nm. All measurements were taken in triplicates with standard deviation shown as error bar. M8 retains approximately 60% of activity where M9 demonstrates comparable activity to cathepsin L. P <0.04 betweenCat V and M9, and p < 0.04 betweenCat L andM9.

48 ______

M8 CatV CatL 6644s6

10 12 04 16 14 20 Ufla.

Figure 2.11 The HPLC profiles of wildtype cathepsins V, L and M8. The profile of M8 displays high similarity to wildtype cathepsin V with only a few peaks that are lower in intensity relative to other peaks. The highest peak is also significantly lower for M8.

4 or 2, a. I CatV CatL

350

70

60

200

60

40

100

30

0 2 4 6 6 10 62 14 II 10 20

Figure 2.12 The HPLC profiles of wildtype cathepsins V, L and M9. M9 which contains the bridge region of cathepsin V demonstrates an increase in intensity of the highest peak even though no other degraded fragments are observed.

49 Elastin-Rhodamine

120 V 100

80

C.) 60

(U 0 40 U, L 20 0

Figure 2.13 The elastolytic activity of mutants 6, 7 and wildtype cathepsins using elastin-rhodamine conjugates at 120 minutes. lOmgImL of elastin-rhodamine was incubated at 37 °C with 1 M of enzyme under constant shaking of 200 rpm in activity buffer containing 100mM sodium acetate, 2.5mM EDTA and 2.5mM dithiothreitol at pH5.5. Aliquots of sample were withdrawn from the reaction mix at t = 0, 30, 60, 90, and 120 minutes, added with E64 and tested for absorbance at 590 nm. All measurements were taken in triplicates with standard deviation shown as error bar. It can seen that M6 retains approximately 75% of the wildtype elastolytic activity, whereas insertion of gicyine in cathepsin L (M7) did not rescue elastin degrading activity. P < 0.03betweenCatV andM6,andp > 093 between M7andCatL.

50 MG CatV CatL Apr 17th 00420

70 250

270

50

ISO

110

10

10

2 4 6 6 10 12 14 16 20 MirwA.s

Figure 2.14 The HPLC profiles of wildtype cathepsins V, L and M6. Carrying a glycine deletion, the HPLC profile of M6 demonstrates a degradation pattern that is highly similar to the wildtype but with few missing peaks and a less intense highest peak. This confirms the deletion of glycine compromises the elastolytic activity possibly because the mutant was unable to bind to certain residues of elastin.

51

proline

elastin-rhodamine

chain Figure suggests 250 200 150 300 50

00

thus

2.15

116

M7

the

allowing

and

The importance

2

lysine

HPLC

assay, partial

4

117

profiles

of

it

binding

is

in

glycine

CatV

evident cathepsin

6

of

and

wildtype

in

that

degradation the

I’ L,

6

the

possibly

the

j

cathepsins

binding mutant 0 M0to, 60

\

of

CatL

changing

elastin.

although

pattern V,

62 L

_-

the

is

and

did

more orientation

64

not

M7.

like

generate

After cathepsin

16

of

inserting

the

any

succeeding detectible

18

V

than

a

glycine cathepsin 20 30 60 20 50 50 40 SO

35 90

results

lysine

between

from

L.

side

52 It Figure 2.16 The distribution of potential elastin binding domains in human cathepsin V. Shown here is a PyMol rendered surface representation of human cathepsin V. The domains potentially correlate with the elastolytic activity are colored in steel blue, royal blue and yellow whereas the rest was left as red. The steel blue domain spans amino acid 113 to 119, TVVAPGK, in cathepsin V is located directly at the entrance to the active site cleft. The royal blue patch represents 118glycine which may involve in elastin binding by orienting the subsequent 19lysine’ The yellow domain spanning amino acid 89 to 104 is where the neutral patch is located. Notice how the two domains are not adjacent to each other which is mechanistically reasonable as elastin in .its natural form is a polymerized tropoelastin with complicated cross-linking, therefore by placing the elastin binding domains on different facets of the enzyme it allows the enzyme to interact the macromolecule in a three-dimension fashion.

53 the bridge-region; Figure Catalysis extending initiated elastin 2.17 through takes mo’ecule

pod ( A schematic red: of place binding elastin occurs neutral as a of representation pod molecule immediately patch) the of side elastin of (gray). chain cathepsin after falls of of Adsorption the the into Iysine 119 Binding proposed catalysis V the contact active (dark happens elastolytic leaving site with blue) cleft. when other a of cleaved mechanism The cathepsin the extending final elastin-binding product. dissociation V of pod (light cathepsin of blue) /CatalYsis elastin domains of V. enzyme to Binding one molecule. (green: of from the 54 is References

1. Lecaille, F., Kaleta, J. and Bromme, D. (2002) Chem Rev, 12, 4459 — 4488

2. Adachi, W., Kawamoto, S., Ohno, I., Nishida, K., Kinoshita, S., Matsubara,

K.,and Okubo, K (1998) Invest. Ophthalmol. Vis.Sd. 39, 1789—1796

3. Tolosa, E., Li, W., Yasuda, Y., Wienhold, W., Denzin, L. K., Lautwein,

A.,Driessen, C., Scbnorrer, P., Weber, E., Stevanovic, S., Kurek, R., Meims,

A.,and Bromme, D. (2003) .1 Clin. Investig. 112, 517—526

4. Yasuda, Y., Li, Z., Greenbaum, D., Bogyo, M., Weber, E., and Bromme, D. (2004)

J Biol. Chem., 35, 36761 — 36770

5. Debellem L., and Tamburo., A. M. (1999) Int. JBiochem. Cell boil, 31, 261 —

272

6. Tamburro, A. M., Pepe, A, and Bochicchio, B. (2006) Biochemistry,45, 9518 —

9530

7. Novinec, M., Grass, R. N., Stark, W. J., Turk, V., Baici, A. and Lenarcic, B.

(2007) 1 Biol. Chem., 11, 7893 — 7902

8. Choem Y., Leonetti, F., Greenbaum, D. C., Lecaille, F., Bogyo, M., Bromme, D.,

Eliman, J. A., and Craik, C. S. (2006) J. Biol. Chem., 18, 12824—12832

9. Brömme, D., Li, Z., Barnes, M., and Mehler, E. (1999) Biochemsitry. 38, 2377 —

2385

10. htt:p:!/tools.invitrogen.corn/content/sfs/rnanuals/pichrnan.pdf

11. Somoza, J.R., Zhan, H., Bowman, K.K., Yu, L., Mortara, K.D., Palmer, J.T.,

Clark, J. M., McGrath, M. E. (2000) Biochemistry, 39, 12543 — 12551

55 12. Santamaria, I., Velasco, G., M., C., Fueyo, A., Campo, E., and Lopez-Otin,

C.(1998) Cancer Res. 58, 1624—1630

56 perform CHAPTER the identified;

only

epidermis, thoroughly 80% crystal

function other described

between specificity observations, V

the elastolytic enzyme’s

However,

sites

and

later

kinetic

carried

identity

to

hand,

L

The

structure

Nonetheless,

carry

must

an

the additions

and

as

protease

some

the

activity and

profiling

behaviors

characterized.

human

out

array

substrate the

to

only

it

exist III out

structure,

kinetics

thymus

prompts

in

that members

of

most

proteolysis —

the

to

of

activity

cathepsin

that observed demonstrated

cathepsins

Conclusion

of

one

study

the

of

potent

preferences

functions. past

of

cathepsin causes

(2,

the

us

less

potential

cathepsin

of

While

all

ten

in

on

to

3,

mutants.

the

mammalian

to

V

general?

even

mutants is

hypothesize

years

the 4)

are various

has

the

family

known

While

there

L,

suggesting

of

minimal potent

concern

and

a

though

family been

structural

(2).

and

both

family

Both

This

is

human

are

are

Recommendations

The

for

about

elastolytic its

studied elastase

compatible

human

that

cathepsins their as that

rather

a

question

elastolytic

expression

of

some,

amino

growing

a

its

difference

cathepsins a

potential

lies papain-like

its

substrate

structural

(5),

identification

cathepsins new.

to-date

elastolytic

the in acid activity

can

with and

V

this

number

(1).

has

activity.

functions

be

and

sequence

but

role

(6).

its

preference

revealed

their

study difference

Human

answered

been

of

cysteine

V

active

L

not

Human

in

cathepsin

and

of employ activity.

and

for

parental

is

immune

to found

Moreover,

reports

of

and

cathepsin

L how sites

significant

characterization

Further

the

cathepsin

proteases

taking may

cathepsin

(7). between

identical

distributions

in

difference

to

and

V. Cathepsin

cathepsins.

Based

on

response.

differ

testis,

contribute

advantage

sub-pockets

V

a

cathepsin’s

Work cathepsins

V

similarity

found

L,

is

substrate

on

catalytic

slightly.

cornea,

bears

one

on

in

these

V

was

The

The

are

the

the

the

of

to

57

of

is

a •

mutant proportion behavior,

reported

elastin unable with cathepsin

of pattern investigation soluble

carried degraded structure

cathepsin the domain-swapping. TVVAPGK domain

entrance

119)

cathepsin

active

our

seems

but

In behaves

of

to

elastin

out

to

that

hypothesis

of

leading

the elastin

L’s

this

cross-linking

displays

V

site

adsorb of

amino

the

either

to

domain

V

of

elastolytic by human

lack

either

study,

altogether

cleft

correlate

polymerized as

elastolytic

more

fragments

cloning

to

acids

a

of

using to

minimal

Our

and

the

structure

that

parental

we (bridge-like)

an cathepsin

and

like

89 of

active

sequential

the

elastin set activity

with

human fluorogenic

also

chimeric

tropoelastins

with degrade to

activities:

one

out adsorption

orientation

elastin

cathepsin.

related

119 majority helps

site

to binding

L

fluorogenic

parental

cathepsin

is

pinpoint

is

in

demonstrates

cleft, analysis

independent

and

mutants

distinguishing

polymerized

an

cathepsin

phenomenon.

or

1)

to

of

the

of

domain interesting

is

elastin

While

chromogenic

and

insoluble

cathepsin

random. elastolytic

the

L

the

assay

chemicals has

and

therefore must

lysine

potential

V

there

is

and

of

pinpointed

potent

of

mutants

where

elastin

insoluble

the

lack elastin

one

such

One

However,

or

elastolytic

its

side

activity

is

such

insoluble

elastin

may

the

potent

because

activity

elastin the

hence

a

trend. TVVAPGK

efficiently.

chain.

(8).

trend

involving

other

as

the

elastin in

direct

found

two

This fluorescamine.

conjugates

elastolytic

activity cannot

aqueous

binding

Furthermore,

potential

of

elastin

against

in

It

along

the

obstacles

its

is

finding

binding

the

in

point-mutation

(amino

located

Therefore,

predict

close

bound

are

domain

cathepsin

degrading

mutants’

phase,

with

soluble

activity

elastin

or

almost

is

domain

proximity

lying

by

it acids

compatible

right elastin

the

increasing

and

has

in

labeling

ETNA

binding

kinetic against

human

V. overall

always

human

ability

in

at

113

2)

been

thus

The

into

and

the

the

its

58

to — the

mutual

clear not loss

cathepsin

chain

orientation as specific the access

have

the residue cathepsins

succeeding potential correlates L

into

to

an

active

E-amino

rescue

of

size

cathepsin that

contributed

evaluate

of

“antenna” swapping of elastolytic

One

Following

is

orientation

the lysine”9 L

role

of

elastin

present

site

V

with may

any

led

lysine.

other

group

glycine, loss

and

in

L cleft

the us

clear

noticeable

elastin between

a to

for

did

point

of activity.

L,

that

to

in

the

as

So

of

impact

25% the

may

for

the

consider

cathepsin

degradation.

it

not

up

it lysine’17

a

such

was

inserts sequence inability

of

degradation.

glycine

domain

degradation.

points

the service

generate

decrease

human

interest

However,

of

found elastolytic

arrangement

“passage

the

such

V

into

is

away

deletion of

two

from

cathepsins

involvement

but

alignment

orienting

The

in

that

an

cathepsin

in

arrangement.

and

this

possible

On

implementing

not

increase

The

way”

cathepsin

from

opposite

cathepsin

a

activity

glycine

the and

bridge-like

hold

in

may

importance

inwardly

leading L. V

the

other

L

in

insertion

purposes:

in of

and

the Due to

have

is

the

V

active This

residue

another

detectible

V’s adsorb

It

observed

hand,

L, constitutes

elastin

to

this

to

bridge-like

domain

was

facing

designated

resulted

absence

the

the elastolytic was

of

site

same first,

while

immediately to

domain.

found

unique

this

active

carried

in

elastin

elastolytic

cleft. in

the

is

the

domain

an

place;

human

inserting

in domain

the

of

active

domain

M8

that

site

approximately

£-amino

structure

activity

the We molecule.

elastolytic

out

orientation

and

thus

the

and

following

in

activity, cathepsin

in

orientation believed

site

was

a

cathepsin

M9.

cathepsin

of

deleted allowing

glycine

group

secondly,

suggesting of

cleft

assessed

both

And

proline

activity

of

the

5O6O% a that

and

L

may

the

glycine

residue proline

human

It

of

where

HPLC L

easier

V

was

may

side

this

this

did

and

and

by

act

the

in

its 59 the profile wildtype

the

degradation that suggest found

elastins

exploring serve of

nonproductive degradation form

the was enzyme had L catalytic indeed

to

cathespin

mechanism

adsorptionldesorption participation

region

been

pointed

demonstrate

a as

within

of

It

catalytically

is

the are

a

may

cathepsin

step

the potential shown had

an elastin

consisted

involvement

show

was

through

L

that

either interaction

amino

involvement

been

would manner,

should

employed

evident.

to

such

high degradation

more of

V

binding

remain

demonstrate

productive

hypothesized

the

acid

mainly

but

the

not

adsorption

elastolytic

commence

and

neutral

following

between

of

not

92

favor

Furthermore,

by

TVVAPGK

proceeds

of

adsorbed

patch

other

the

of to

these

this

L.

by

neutral

such adsorbed complex.

104.

amino

Taken

a

region whereas

activity

step

residues

this

cathepsin

high

that steps:

mutants

spontaneously

in

interaction. The on

was

mutant rapid

amino

together,

acids

domain

cathepsins

degrading as

the

in

first

enzyme

Upon difference

if

the

was

in

elastin

not

during

surface

such

L

cycle.

in

the

elastin

mainly acids,

suggested and

observed

mentioned

cleavage

and cathepsin

even

It

speculation

enzyme

then

degradation.

activity

and

elastin

K,

is

elastin

One

of

a

between

degradation,

of therefore

charged

neutral

though

elastin

S,

interacts

rapidly

would

in the

a and

adsorbs

and

degradation

against molecule,

V

earlier,

cathepsin

degrading

is

glycine than

surface

or cathepsins

release no

residues

L

of

however

true.

thus

with

dissociates

may information

to

great

and

soluble

our

in

elastin

Because

other

displaying then

of

of

L

cathepsin

residue

proceed

pattern

in could these

results

interest

probably

the

the

expect

V

the

elastin,

the

elastin

and molecule

region

from

products,

residues

same

be

concerning

cathepsin

subsequent

seemed

similar

in

to in

cathepsin

L

L. inferred,

a

because it

sites if

further elastin

within

region

elastin

would

potent

Since

(8).

there

in

are

the

to

to

60

to

It L

a elastolytic with

L

be how the potential.

consisted negatively

in site relatively

binding strong hand,

weaken demonstrated

Upon elastin not in

other,

(6).

contributed

cathepsin extended

cleft

potential

impossible.

do

such

Therefore

cathepsin

more

adsorption

may

Taken we

degradation,

elastin

domain,

is

of

option

large

activity.

Human

charged

entirely explain

possess

neutral

considerations,

V

region

elastin-binding

to

together

compromised

binding.

are

comparing

Since

V,

one

as

its

hence

of

the The

not patches

cathepsin

neutral.

only

amino after

lack multiple

the

of

one

may

elastin,

inability

adjacent

result the

the

the enzyme

minimal of

swapping

may

consider

acids,

on

to

However,

a

surface observed

however,

results

extending

strong

reported V

elastolytic

being domain? cathepsin

its

question

to

to

to

has it

surface

elastin

rescue

each

the

possibly

that

of

and

including

elastin-binding

polymers

the

lack

been

the

the

surface

from

other

“pods” the It

the L,

the

cathepsin while degradation

electrostatic

activity

fact

bridge-region

of can

the

inability

reported

possesses

possibility

our

potential

but

increased

of

of that

the

majority negative

be

of

laboratory

elastin tropoelastins

still

tropoelastins

because

active

two

L’s

argued

domain.

to

was

to

contribute

potential

a

participation

elastolytic

potential

detect

of

elastolytic

in surface

is

surface

(TVVAPGK)

possess

site

observed

weakly

spite

multiple

that

however

the

However,

vastly any

cleft

of

with

of

and

potential since to

introduced

elastin

activity

cathepsin

only

positive

the

adsorptionldesorption

activity.

elastolytic

for

(2).

elastin-binding

of

is was

neutral

cross-linked

introduced

elastin if

so

with

human

other

a

binding

Since

that

not

after

may

much

few

and

L

On

cathepsin

electrostatic

region

compatible

is

residues

activity is

is

cathepsin

the swapping

not

elastin

localized

the

the

negative

larger

domains

elastin mainly

to

active

allow

case,

other

sites.

each

may

are

L,

61

is in

in to size

tropoelastins. dimensional

following (8), non-catalytically

fastening on

spontaneous step carried through acids

binding adsorptive purposes

activity degradation through (9).

functions

possess

the

in

an

takes

Therefore,

91

comparison

neutral

The out

overall

by in

patches

interruption

to

of

steps. in

might

pathological multiple

place.

step

alanine

in

identification 6-amino of 104

docking

interaction

inhibitor

So,

order

patches

MEC-Il

through

First, putative

a

should

be

combining

of productive

As

to

specific

substitution.

to

elastin-binding

highly

neutral

cathepsin

side

of

a

of

weakly

in

confirm

design.

condition

result

complex

its

tropoelastin

be

with

elastin

the

model

chain

of

side

examined beneficial. inhibitor

the

domains.

region

maimer

elastin-binding

charged

of

elastin

V, or

Cathepsin

chain,

of

adsorptionldesorption

binding

in of

the

such to

it

lysl

immune

domains of will

alternate elastin

into

that proposed

facilitated

to as

cathepsin

as

it

amino

Secondly,

Through

19

make

will

while evaluate

atherosclerosis the

cathepsin

to

will

V

binding

system

elastin,

neutral

domains on

the be

was acids

perfect

diminish model,

still

the V

interesting

different

by

model.

as

the

found

adsorbs

91

suggests

V

allowing identification

the

Lys”9 by as active

mechanistic

involvement

model

to

in

“dives”

several

well

(6); First,

cathepsin

insertion

its

to

104,

cathepsin

facets

on

to site

is

its

carry

however, as elastolytic

proposed

it

the assess the

followed

suggested

further

important

elastin

cleft

into

to

to

region

surface

sense

of

out

into

V of

carry

V

involve

where its

the

the

elastin

may

its

by

serves interaction

elastin

works

by

activity and

for effect

between

involvement

elastin gaps

role

Novinec

out

to

of

a

the cathepsin

involve

in

elastin

subsequent

subsequent

initiate

interaction

significant

its

should

in

degrading on

between

a catalytic

perhaps

humans

binding

regular

elastin three-

amino

found

et

in

the

the

al.

V

be

62

in

a understood. domain

in

Altogether, cathepsin

V,

these

studies

findings

on

shall

the

mechanisms

shed

light

on

the

of

design elastin

of

degradation

specific

inhibitor.

can

be

63 References

2.

3. 4. 1.

5.

6.

7.

9. 8.

Brömme, Lecaille,

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B. 64 — APPENDIX thesis substrate Figure program, Procedure, used obtained graph a enzyme above Michaelis-Menten A. was by 35. 30 25 15 10 for was The at 5 0 I in for various The data 0 the Mutant determined the I followed enzyme

I constructed, kcat Michaelis-Menten were reaction spectrophotometer. concentrations. will I 6 10 kinetics first graph by where again as would the input appropriate following.

Michaelis-Menten is need utilization Vmax of based The Graph be 20 I to both I to enzyme and input construct be on for Therefore, the The Km

[Z-FR-MCAJ further of information the Mutant in concentration wildtype the 30 data will order absorbance I a Prism converted 6. Michaelis-Menten were be appropriate to The calculated. and program calculate

Graph such collected was 40 data

I I mutant measured

(pM) 1tM. to were as the (GraphPad

for the the unit After collected as cathepsins correct 50 kcat outlined over graph concentration

M6 conversion the from 1 unit using Michaelis-Menten minute Inc.). as described 60 in I Vm. I as the Z-FR-MCA Experimental the In one which would The the of y-axis shown in active Prism 70 value I was this as 65 be of a commenced

substrate

degraded

to

convert

per

second,

the

absorbance

i.e.,

iMJsecond.

measured

over

1

minute,

to

concentration

of

66