Microsatellite DNA Associate with Some Common Human Disease

A review of

By Hozan Ibrahim Ibrahim

Supervised by Professor Dr. Hazha Jamal Hidayat

Biology Department / Education College / Salahaddin University – Erbil

(2019-2020)

Abstract

Satellite D.N.A, also identified as repetitive & DNA, includes a group of repeating

sequencese & describe a different group of repetitives units. Satiellite D.N.A. can classified to

different categories based on size of every repeate; microsatellite, minisatellite, & macrosatellite. A microsatellite is one class of the tandem repeats and microsatellite-induced

some genetic differences are proven to affect phenotypic differences. Mutationse in microsatellite could even lead to several infected phenotypes and altered protein function and the causes of these major processes of biology may be repeated by microsatellite. It does however alter the cellular phenotype, disease, & cancer. In this review, I discuss the correlation between some diseases with microsatellite on different positions of chromosomes.

Keyword: Satellite DNA, Microsatellite related diseases, Mutation.

1 Introduction

Just a small fraction of human DN. A. encodes proteins, and most

unencrypted DN. A. , transosons and elements derived from transposon make up the bulk of the genome (Rich, et al., 2014). In the 1970s, that fact was first

discovered. The human e genomee projects efforts ensued in an estimate of

percentage unencoded DN. A. for the human genome from 98 to 99 % (Rich, et al., 2014). Eukaryotic genomes consist of a large number of various categories

of repetitives DN. A. . sequence , spread (of the most part transposones & retro-

transposones, also retro-transposoneed sequence & several famiilies of proteins

encoding genes)/or ordered in tandeme (ribosomale R..N...A.., genes famiily encode

proteins, sat iellites, DN. A. telomere, the central DN. A. ( Lópezes-Flores, and

Garido-Ramocs, 2 012 ; Biscotie , et.. al., 2. 015 ).

T.he tandems repeated sequences as well named satellite DN. A. , when repeats

copy are adjacent (Rich, et al., 2014). Sat DN. A. s could make up a large part of

the human genomes (Macas, et..al., 2 000 ; De la, et . al., 2001; Hrbová , et. al.,

2010; Ambrožová , et. al., 2011; Čizkova , et. al., 2 013 ; Emadzade, et. al., 2 014 ; Garrido-Ramos, 2015). DNA Repetitive will demonstrate the C values enigma (Gregory, 2005). The term of «junk DNA» also it was represented by the called value C enigma, base on which the size of the genome is not related to

the level of complexity of the organism (Hoeppner, et al., 2009). The genomes

sizes variations a mange spec ies, evene similar spec ies, are often thousands e of

ordiers of magn itiude (Jaillon, 2004; Bennett and Leitch, 2005; Piegu, et.. al., 2 ,006

; Hu, et.. al., 2011 ; Piednoël, et .. al., 2 012; Wei et .. al., 2014 ). Transport elements

(TEs) are chiefly responsiible to observed of differentiated among genomese between repeated sequences. For instance, TEs account for 45 per cent of the

humane genome ( Landeer , et .. al., 2 001). For instance, various families of

2 satDNA may exist in one species; 9 families of Sat DN. A. present in human e

genome (Leivy, et .. al., 2 007 ; Meiga , 2015).

2 Type of Sate llitey D.N.A.

Sate llitey D.N.A isdivided to different classes depending on sizes, structures, &

locations(Garrido-Ramos, 2017). Satellite DNA can be divided in to three classes

as following (Richard, et. al., 2,008 ; Picardo , et . al ., 2,009; Tremblay, et . al .,

2,010 ):

2.1 Microsatellites (less than 10 bp perrepeat)

The, more widespread of satellites e are the simplest repetitive on the

chromosome (microsatellites e ), also often referred to as short e t .andem repeat e (

S.T .R )/or s imple sequence s repeate ( S.S.R ) /or short sequence repeats (SSRs), it

is composed of tandem duplications of 1–6 b .p ( Lanider, et . al. 2 001; Picardo ,

et. al., 2009).

2.2 Minisatellites (10–60 bp per repeat),

It is noncoding D .N .A s, it's found mainly in chromosomal centro - meric or

telo -meric areas. This, type of satellite D .N .A is demonstrate by a, & g-

satellite e (Rudd, et al., 2003). Among the repetitive DNA families scattered throughout the genome are variable number tandem repeats (VNTRs), also named minisatellites (Antonio, and Gustavo , 2017).

2.3 Macrosatellites (several kb per repeat)

Macrosatellite repeat e ( M.S.R ) is also the one satellite to have an open e

reading e frames ( O . R . F. ) & thus create protein coding( R. N . A) in any repeate

unit, as described in D .4Z.4 (D .U .X . 4), C .T . 47, R .S . 447 & T .A .F 11. Repeats like

P.R.R. 20. Compared to telomere/ or centomerial sate llites s, That one may be

present in several chromosomes, M .S.R.s are often intended for only one/or

two chro - mosomes s.(Baloge , et. al ., 2 .012; Genge , et. al., 2 .012 ) .

3 Some Common Human Diseases Correlate with Microsatellite

3.1 Polyglutamine (PolyQ) Diseases

PolyQ-disease (polyQ) includes spino-cerebellar ataxia (S.C.A)

types1 .,2 .,6 .,7,&17., in addition to Machado .-Josephs disease ( M. J . D./S. C. A . 3 ),

Hun.-tington's disease s (H .D .), dentate-rubral pallidoluisiana (D . R. P. L . A . ), &

spinale builbar musculare atrophye X linked type . 1. (S. M. A. X. 1/S. B. M. A. )

(La .Spada, and Taylore, 2 .003 ; Orre, and Zoghbi i, 2007). This genetic disorder

caused by the expansion of CAG repeat exepansion of

cytosine,adenine,&guanine recurrence ( C.b A. G. ) is the actual reason of a triple recurrence disorder, known collectively as polyglutamine disease,

and the expanded C .A.G. properties transform in to a seriese of uninte -rrupted

glut amine residues that are exposed to agglomeration, allowing toxicity to

cells e (Gabrijela Dumbovic, et al., 2017).

3.1.1 Spinocerebellar Ataxias (SCA)Types1,2 3,6,7, &17

Spino cerebellar ataxia (S.C.A), is autosomal dominant e disorder, occurs in both men & women, usually affects the central nervous system ( C.N.S) (Rube,

et. al., 2013 ; Scholes, et.al., 2 004 ). The S.C .A .. is a subsets of autosomal dominant inherited cerebellar ataxias. These are progressive neurodegenerative diseases that express ataxia's clinical characteristics caused by the progressive cerebellum degeneration, yet other associated regions also may be affected, involving brain

steme (Zoghbi, & Orr, 2000; Nakamura, et al., 2001 ). Characteristics include balanced loss of equilibrium & arrangement, poor perception, damaged vision &

decelerating of polysaccharides, dyslexia, dysphagiae, neuropathy of peripherale, extrapyramidal symptoms, dysfunction & respiratory failure (Sullivan, et al., 2018).

3.1.2 Hun ti ngton's Diseases ( H. D. )

Huntiington's disease (HD). is a rare neurodegenerative disease, a prevalent autosomal dominant disease in adulthood (Thomson, et al., 1998; Bates, 2003;

Menzies, et al., 2010). Characteristics include growth of choreae dance that

moderetely spreads to totally muscles & is often noticeable with othere movement disorders, involving dystoniae, slowed movement, & motor inconsistency (Walker, 2007). Behavioral or psychological characteristics are also common,

like as changing in personality, care deficit, cognitive descent, irritab iility &

dementiae (Roos, 2010; Gabrijela, et al., 2017).

3.1.3 Dentato. rubral..Pallido.luysian..Atrophy. ( D. R. P. L. A .)

D.R.P.L.A. is an uncommon dominantal autosomae neuro - degenerative disease, as well defined as HawRiveresyndrome & Naito Oyanagi disease (

Burke , et . al., 1 994). It features symptoms including such myoclonus, epilepsy, ataxias & choreoathetosis (Veneziano, et al., 2020 ; Yamada, 2010). It classify into three DRPLA groups based on the age of onset: the lower seizure group, younger than 20 years old, demonstrated ataxias and symptoms compose with myoclonuse epilepsy. A group that begins in adulthood, between the ages of 20&40, may experience muscle myoma attacks. The group that started late, over 40 years old, is featured by ataxia, choreoathetosise and demintia. In addition to

these symptoms e, cervic dyistonia, degenerate of endothelial, autisms, & surgical

resistance difficult slieep apnea aren't uncommon in patients with D .R.P.L.A (Hatano, et al., 2003).

3.1.4 Spinale Builbar Musculare Atirophey X - Liinked Typee 1 (S .M .A .X .1/ S

.B .M .A .) ( 1 ,0 7 - 1,4 4 ).

Spinale builbar musculare atirophey ( S. B. M. A .), often referred to as Keniinedy’s

diseasees (Breza & Koutsis, 2019 ). characteristics include weaknes and typical

early S.B.M.A. symptoms are difficult of walk and a tendency to decrease, muscles & facial deficiency, low of the soft palate & soft movements, and tongue atrophy often occur with fasciculation (Fan, et al., 2014).

3.1.5 MachadoeJosepheDisease ( M. J. D/SCA3):

Spino.cerebellareataxia (S.C.A.s) is a class of auto-somal dominant disorder effect by cerebellum degeneration and its subsequent or discharged pathways.

Between these, expansion of polyglutamine (polyQ) causes S . C. A. 1,2,3,6,7,17

& the atrophey of dentatorubral e pallidoluysiana (Van, et al., 2002 ; Paulson, 2012). Characterized by memory impairment, difficulty speaking and

swallowing, weak ar ms & l egs, clumsy, recurrent urination & uncontrolled eye

movementes. Feature typically develop in early teenager, & may deteriorate

through time. Ultimately(M .J. D).,allows paralysis. fun ictions nevertheless Just stay the same (Kawai, et al., 2004).

3.2 X-Fragile Syndrome

X Fragile Syndromess ( F. X. S. ) is a genetice diisorder with a mild to medium

intellectuale dis ability that is generally inherited diseases due to triplet repeat (Gabrijela, et al., 2017). Instead, the repression of gene transcription, caused by the expansion of micro-satellites, leads to a mechanism for job loss. For

instance, fragile Xmentale retardation e 1 gene (F .c M. R. 1) is related to satellite

expansion (C .G .G .), resulting e in sil encing of transcription and loss of FMRP, the

proteineproduct of FMR1 gene (Elisabetta, et al., 2016). Characterized by

physical showcases may involve a longe, narrow faces, large ear, fingers flexibility, & large testes, and about a third of patients have autism characteristics such as social interaction problems and late language, as well as hyperactivity is common and eye cramps occur. 10%. Men are affected more generally than women (Santoro, et al., 2012).

3.3 Myotonice Dystirophy

Myotonic dystrophy ee is a genetice condition affecting function of muscle, which is a form of muscle dystrophy (Meola and Cardani, 2015). It has two types; Myotonic Type 1 dystrophy (DM1), as well recognized as Steinert’s diseases ; & Myotonic Type 2 dystrophy (DM2), as well recognized as proximal myotonic myopathy,they are both inheritance in an autosomal dominant manner (Harper, et al., 2001). Triple repeat expansion conditions involve common hereditary diseases, for example myotonic dystrophy (Gabrijela, et al., 2017).

DM-1 is affected by a ( CTG ) expansion of the dystrophia e myotoni ca proteine

6 kinasee (D .M .P .K.) genes in the 3′untranslated regions ( Brooke, e t. al., 1 9 92;

Mahadevan, et . al., 1992 ). Characterized by Symptoms involve progressive Muscle Loss and Fatigue exacerbation. Often muscles tighten up and can't relax. Other symptoms may involve problems with cataracts, intellectual handicaps, and cardiac conduction (Meola and Cardani, 2015).

3.4 Friedreich’s Ataxia Friedrich ataxia ( F R D A), this autosomal recessive genetic disorder is the most common hereditary ataxia in Caucasian disease. In most cases, this is due to a large expansion of GAA recurrence with a decrease in the expression of the

targete frataxin gene (Massimo, 2006).(F.R.D.A).( F.R.D.A. )causes hypertrophice

cardiomyopathy & elevated risk of diabetese, in addition to accelerative

neurologicale disab ility (Klockgether, 2011). There are common skeletal defects such as kyphoscoliosis, and pescavus. The initial signs normally occur during puberty (Massimo, 2009).

3.5 Kennedy Di sease

K ennedy d isease (KD) is uncommon X linked disorder that is clinical ly

feature by gradual accelerative muscle weakn iess & seizure atrophy in adult men (usually in the 4th or 5th decades). For several years muscle cramps may be followed by weak fit (2008, et al., 2008). It is due to mutation of the

androgen e receptore gene on exon 1 in the X chromosome long arm (Xq 11-12) results from a triple expansion of CAG between 40 and 62 repeats at the 5 ' end of this gene the normal values between (11 & 33) (Francisco, et al., 2011). Characteristics such as related to the involvement of both the spinal and bulbar motor neurons, including facial weakness, difficulty of speech & coarse fasciculation (2008, et al., 2008).

3.6 Hereditary Non-Polyposis Colorecta il Cancer. ( H N P C C )

Hereditable non-polyposis colorect al cancere ( H .N .P .C .C, L ynch synd rome) is

a genetic e disorder that is dominantal autosome hereditary and is affected by poor DNA repair due to mutations in the (M.M.R). gene and gives a marked

7 increase in the risk of different cancers, especially the colon and endometrium

(Steinkee, et . al., 2013). Genetic and / or epigenetic changes in (M S Rs) has been related to various human diseases, involving cancer (Warburton, et al., 2008). Besides mutations in the (M M R) genes, there are also very possibly variants in other genes which enhance the risk of colorectal cancer (La-Spada, and Taylor, 2010 ; Moreira, et al., 2012).

Conclusion

Tandem repeated sequences. Also, called satellite eDNA. The satelliteeDNA

classify into vary classes depend to size, structure e & location. The, more

widespread of satellites e are the simplest repetitive on the chromosome, referred

to as short e t .andem repeat e ( S .T .R )/or s imple sequence s repeate ( S.S.R ) /or short

sequence repeats (SSRs), it is composed of tandem duplications of 1–6 b .p. Microsatellite has associated with some disease in different position of particularly with telomeric and centromer of the chromosomes due to mutation and DNA expansion by variety causes and the major feature of all the diseases are neurotransmitter and muscle dysfunction .

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