Phylogeny Codon Models • Last Lecture: Poor Man’S Way of Calculating Dn/Ds (Ka/Ks) • Tabulate Synonymous/Non-Synonymous Substitutions • Normalize by the Possibilities
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Lecture Notes: the Mathematics of Phylogenetics
Lecture Notes: The Mathematics of Phylogenetics Elizabeth S. Allman, John A. Rhodes IAS/Park City Mathematics Institute June-July, 2005 University of Alaska Fairbanks Spring 2009, 2012, 2016 c 2005, Elizabeth S. Allman and John A. Rhodes ii Contents 1 Sequences and Molecular Evolution 3 1.1 DNA structure . .4 1.2 Mutations . .5 1.3 Aligned Orthologous Sequences . .7 2 Combinatorics of Trees I 9 2.1 Graphs and Trees . .9 2.2 Counting Binary Trees . 14 2.3 Metric Trees . 15 2.4 Ultrametric Trees and Molecular Clocks . 17 2.5 Rooting Trees with Outgroups . 18 2.6 Newick Notation . 19 2.7 Exercises . 20 3 Parsimony 25 3.1 The Parsimony Criterion . 25 3.2 The Fitch-Hartigan Algorithm . 28 3.3 Informative Characters . 33 3.4 Complexity . 35 3.5 Weighted Parsimony . 36 3.6 Recovering Minimal Extensions . 38 3.7 Further Issues . 39 3.8 Exercises . 40 4 Combinatorics of Trees II 45 4.1 Splits and Clades . 45 4.2 Refinements and Consensus Trees . 49 4.3 Quartets . 52 4.4 Supertrees . 53 4.5 Final Comments . 54 4.6 Exercises . 55 iii iv CONTENTS 5 Distance Methods 57 5.1 Dissimilarity Measures . 57 5.2 An Algorithmic Construction: UPGMA . 60 5.3 Unequal Branch Lengths . 62 5.4 The Four-point Condition . 66 5.5 The Neighbor Joining Algorithm . 70 5.6 Additional Comments . 72 5.7 Exercises . 73 6 Probabilistic Models of DNA Mutation 81 6.1 A first example . 81 6.2 Markov Models on Trees . 87 6.3 Jukes-Cantor and Kimura Models . -
Mutations, the Molecular Clock, and Models of Sequence Evolution
Mutations, the molecular clock, and models of sequence evolution Why are mutations important? Mutations can Mutations drive be deleterious evolution Replicative proofreading and DNA repair constrain mutation rate UV damage to DNA UV Thymine dimers What happens if damage is not repaired? Deinococcus radiodurans is amazingly resistant to ionizing radiation • 10 Gray will kill a human • 60 Gray will kill an E. coli culture • Deinococcus can survive 5000 Gray DNA Structure OH 3’ 5’ T A Information polarity Strands complementary T A G-C: 3 hydrogen bonds C G A-T: 2 hydrogen bonds T Two base types: A - Purines (A, G) C G - Pyrimidines (T, C) 5’ 3’ OH Not all base substitutions are created equal • Transitions • Purine to purine (A ! G or G ! A) • Pyrimidine to pyrimidine (C ! T or T ! C) • Transversions • Purine to pyrimidine (A ! C or T; G ! C or T ) • Pyrimidine to purine (C ! A or G; T ! A or G) Transition rate ~2x transversion rate Substitution rates differ across genomes Splice sites Start of transcription Polyadenylation site Alignment of 3,165 human-mouse pairs Mutations vs. Substitutions • Mutations are changes in DNA • Substitutions are mutations that evolution has tolerated Which rate is greater? How are mutations inherited? Are all mutations bad? Selectionist vs. Neutralist Positions beneficial beneficial deleterious deleterious neutral • Most mutations are • Some mutations are deleterious; removed via deleterious, many negative selection mutations neutral • Advantageous mutations • Neutral alleles do not positively selected alter fitness • Variability arises via • Most variability arises selection from genetic drift What is the rate of mutations? Rate of substitution constant: implies that there is a molecular clock Rates proportional to amount of functionally constrained sequence Why care about a molecular clock? (1) The clock has important implications for our understanding of the mechanisms of molecular evolution. -
An Introduction to Phylogenetic Analysis
This article reprinted from: Kosinski, R.J. 2006. An introduction to phylogenetic analysis. Pages 57-106, in Tested Studies for Laboratory Teaching, Volume 27 (M.A. O'Donnell, Editor). Proceedings of the 27th Workshop/Conference of the Association for Biology Laboratory Education (ABLE), 383 pages. Compilation copyright © 2006 by the Association for Biology Laboratory Education (ABLE) ISBN 1-890444-09-X All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without the prior written permission of the copyright owner. Use solely at one’s own institution with no intent for profit is excluded from the preceding copyright restriction, unless otherwise noted on the copyright notice of the individual chapter in this volume. Proper credit to this publication must be included in your laboratory outline for each use; a sample citation is given above. Upon obtaining permission or with the “sole use at one’s own institution” exclusion, ABLE strongly encourages individuals to use the exercises in this proceedings volume in their teaching program. Although the laboratory exercises in this proceedings volume have been tested and due consideration has been given to safety, individuals performing these exercises must assume all responsibilities for risk. The Association for Biology Laboratory Education (ABLE) disclaims any liability with regards to safety in connection with the use of the exercises in this volume. The focus of ABLE is to improve the undergraduate biology laboratory experience by promoting the development and dissemination of interesting, innovative, and reliable laboratory exercises. -
Family Classification
1.0 GENERAL INTRODUCTION 1.1 Henckelia sect. Loxocarpus Loxocarpus R.Br., a taxon characterised by flowers with two stamens and plagiocarpic (held at an angle of 90–135° with pedicel) capsular fruit that splits dorsally has been treated as a section within Henckelia Spreng. (Weber & Burtt, 1998 [1997]). Loxocarpus as a genus was established based on L. incanus (Brown, 1839). It is principally recognised by its conical, short capsule with a broader base often with a hump-like swelling at the upper side (Banka & Kiew, 2009). It was reduced to sectional level within the genus Didymocarpus (Bentham, 1876; Clarke, 1883; Ridley, 1896) but again raised to generic level several times by different authors (Ridley, 1905; Burtt, 1958). In 1998, Weber & Burtt (1998 ['1997']) re-modelled Didymocarpus. Didymocarpus s.s. was redefined to a natural group, while most of the rest Malesian Didymocarpus s.l. and a few others morphologically close genera including Loxocarpus were transferred to Henckelia within which it was recognised as a section within. See Section 4.1 for its full taxonomic history. Molecular data now suggests that Henckelia sect. Loxocarpus is nested within ‗Twisted-fruited Asian and Malesian genera‘ group and distinct from other didymocarpoid genera (Möller et al. 2009; 2011). 1.2 State of knowledge and problem statements Henckelia sect. Loxocarpus includes 10 species in Peninsular Malaysia (with one species extending into Peninsular Thailand), 12 in Borneo, two in Sumatra and one in Lingga (Banka & Kiew, 2009). The genus Loxocarpus has never been monographed. Peninsular Malaysian taxa are well studied (Ridley, 1923; Banka, 1996; Banka & Kiew, 2009) but the Bornean and Sumatran taxa are poorly known. -
The Probability of Monophyly of a Sample of Gene Lineages on a Species Tree
PAPER The probability of monophyly of a sample of gene COLLOQUIUM lineages on a species tree Rohan S. Mehtaa,1, David Bryantb, and Noah A. Rosenberga aDepartment of Biology, Stanford University, Stanford, CA 94305; and bDepartment of Mathematics and Statistics, University of Otago, Dunedin 9054, New Zealand Edited by John C. Avise, University of California, Irvine, CA, and approved April 18, 2016 (received for review February 5, 2016) Monophyletic groups—groups that consist of all of the descendants loci that are reciprocally monophyletic is informative about the of a most recent common ancestor—arise naturally as a conse- time since species divergence and can assist in representing the quence of descent processes that result in meaningful distinctions level of differentiation between groups (4, 18). between organisms. Aspects of monophyly are therefore central to Many empirical investigations of genealogical phenomena have fields that examine and use genealogical descent. In particular, stud- made use of conceptual and statistical properties of monophyly ies in conservation genetics, phylogeography, population genetics, (19). Comparisons of observed monophyly levels to model pre- species delimitation, and systematics can all make use of mathemat- dictions have been used to provide information about species di- ical predictions under evolutionary models about features of mono- vergence times (20, 21). Model-based monophyly computations phyly. One important calculation, the probability that a set of gene have been used alongside DNA sequence differences between and lineages is monophyletic under a two-species neutral coalescent within proposed clades to argue for the existence of the clades model, has been used in many studies. Here, we extend this calcu- (22), and tests involving reciprocal monophyly have been used to lation for a species tree model that contains arbitrarily many species. -
A Comparative Phenetic and Cladistic Analysis of the Genus Holcaspis Chaudoir (Coleoptera: .Carabidae)
Lincoln University Digital Thesis Copyright Statement The digital copy of this thesis is protected by the Copyright Act 1994 (New Zealand). This thesis may be consulted by you, provided you comply with the provisions of the Act and the following conditions of use: you will use the copy only for the purposes of research or private study you will recognise the author's right to be identified as the author of the thesis and due acknowledgement will be made to the author where appropriate you will obtain the author's permission before publishing any material from the thesis. A COMPARATIVE PHENETIC AND CLADISTIC ANALYSIS OF THE GENUS HOLCASPIS CHAUDOIR (COLEOPTERA: CARABIDAE) ********* A thesis submitted in partial fulfilment of the requirements for the degree of Doctor of Philosophy at Lincoln University by Yupa Hanboonsong ********* Lincoln University 1994 Abstract of a thesis submitted in partial fulfilment of the requirements for the degree of Ph.D. A comparative phenetic and cladistic analysis of the genus Holcaspis Chaudoir (Coleoptera: .Carabidae) by Yupa Hanboonsong The systematics of the endemic New Zealand carabid genus Holcaspis are investigated, using phenetic and cladistic methods, to construct phenetic and phylogenetic relationships. Three different character data sets: morphological, allozyme and random amplified polymorphic DNA (RAPD) based on the polymerase chain reaction (PCR), are used to estimate the relationships. Cladistic and morphometric analyses are undertaken on adult morphological characters. Twenty six external morphological characters, including male and female genitalia, are used for cladistic analysis. The results from the cladistic analysis are strongly congruent with previous publications. The morphometric analysis uses multivariate discriminant functions, with 18 morphometric variables, to derive a phenogram by clustering from Mahalanobis distances (D2) of the discrimination analysis using the unweighted pair-group method with arithmetical averages (UPGMA). -
Math/C SC 5610 Computational Biology Lecture 12: Phylogenetics
Math/C SC 5610 Computational Biology Lecture 12: Phylogenetics Stephen Billups University of Colorado at Denver Math/C SC 5610Computational Biology – p.1/25 Announcements Project Guidelines and Ideas are posted. (proposal due March 8) CCB Seminar, Friday (Mar. 4) Speaker: Jack Horner, SAIC Title: Phylogenetic Methods for Characterizing the Signature of Stage I Ovarian Cancer in Serum Protein Mas Time: 11-12 (Followed by lunch) Place: Media Center, AU008 Math/C SC 5610Computational Biology – p.2/25 Outline Distance based methods for phylogenetics UPGMA WPGMA Neighbor-Joining Character based methods Maximum Likelihood Maximum Parsimony Math/C SC 5610Computational Biology – p.3/25 Review: Distance Based Clustering Methods Main Idea: Requires a distance matrix D, (defining distances between each pair of elements). Repeatedly group together closest elements. Different algorithms differ by how they treat distances between groups. UPGMA (unweighted pair group method with arithmetic mean). WPGMA (weighted pair group method with arithmetic mean). Math/C SC 5610Computational Biology – p.4/25 UPGMA 1. Initialize C to the n singleton clusters f1g; : : : ; fng. 2. Initialize dist(c; d) on C by defining dist(fig; fjg) = D(i; j): 3. Repeat n ¡ 1 times: (a) determine pair c; d of clusters in C such that dist(c; d) is minimal; define dmin = dist(c; d). (b) define new cluster e = c S d; update C = C ¡ fc; dg Sfeg. (c) define a node with label e and daughters c; d, where e has distance dmin=2 to its leaves. (d) define for all f 2 C with f 6= e, dist(c; f) + dist(d; f) dist(e; f) = dist(f; e) = : (avg. -
Solution Sheet
Solution sheet Sequence Alignments and Phylogeny Bioinformatics Leipzig WS 13/14 Solution sheet 1 Biological Background 1.1 Which of the following are pyrimidines? Cytosine and Thymine are pyrimidines (number 2) 1.2 Which of the following contain phosphorus atoms? DNA and RNA contain phosphorus atoms (number 2). 1.3 Which of the following contain sulfur atoms? Methionine contains sulfur atoms (number 3). 1.4 Which of the following is not a valid amino acid sequence? There is no amino acid with the one letter code 'O', such that there is no valid amino acid sequence 'WATSON' (number 4). 1.5 Which of the following 'one-letter' amino acid sequence corresponds to the se- quence Tyr-Phe-Lys-Thr-Glu-Gly? The amino acid sequence corresponds to the one letter code sequence YFKTEG (number 1). 1.6 Consider the following DNA oligomers. Which to are complementary to one an- other? All are written in the 5' to 3' direction (i.TTAGGC ii.CGGATT iii.AATCCG iv.CCGAAT) CGGATT (ii) and AATCCG (iii) are complementary (number 2). 2 Pairwise Alignments 2.1 Needleman-Wunsch Algorithm Given the alphabet B = fA; C; G; T g, the sequences s = ACGCA and p = ACCG and the following scoring matrix D: A C T G - A 3 -1 -1 -1 -2 C -1 3 -1 -1 -2 T -1 -1 3 -1 -2 G -1 -1 -1 3 -2 - -2 -2 -2 -2 0 1. What kind of scoring function is given by the matrix D, similarity or distance score? 2. Use the Needleman-Wunsch algorithm to compute the pairwise alignment of s and p. -
A Fréchet Tree Distance Measure to Compare Phylogeographic Spread Paths Across Trees Received: 24 July 2018 Susanne Reimering1, Sebastian Muñoz1 & Alice C
www.nature.com/scientificreports OPEN A Fréchet tree distance measure to compare phylogeographic spread paths across trees Received: 24 July 2018 Susanne Reimering1, Sebastian Muñoz1 & Alice C. McHardy 1,2 Accepted: 1 November 2018 Phylogeographic methods reconstruct the origin and spread of taxa by inferring locations for internal Published: xx xx xxxx nodes of the phylogenetic tree from sampling locations of genetic sequences. This is commonly applied to study pathogen outbreaks and spread. To evaluate such reconstructions, the inferred spread paths from root to leaf nodes should be compared to other methods or references. Usually, ancestral state reconstructions are evaluated by node-wise comparisons, therefore requiring the same tree topology, which is usually unknown. Here, we present a method for comparing phylogeographies across diferent trees inferred from the same taxa. We compare paths of locations by calculating discrete Fréchet distances. By correcting the distances by the number of paths going through a node, we defne the Fréchet tree distance as a distance measure between phylogeographies. As an application, we compare phylogeographic spread patterns on trees inferred with diferent methods from hemagglutinin sequences of H5N1 infuenza viruses, fnding that both tree inference and ancestral reconstruction cause variation in phylogeographic spread that is not directly refected by topological diferences. The method is suitable for comparing phylogeographies inferred with diferent tree or phylogeographic inference methods to each other or to a known ground truth, thus enabling a quality assessment of such techniques. Phylogeography combines phylogenetic information describing the evolutionary relationships among species or members of a population with geographic information to study migration patterns. -
The Phylogenetic Handbook: a Practical Approach to Phylogenetic Analysis and Hypothesis Testing, Philippe Lemey, Marco Salemi, and Anne-Mieke Vandamme (Eds.)
10 Selecting models of evolution THEORY David Posada 10.1 Models of evolution and phylogeny reconstruction Phylogenetic reconstruction is a problem of statistical inference. Since statistical inferences cannot be drawn in the absence of probabilities, the use of a model of nucleotide substitution or amino acid replacement – a model of evolution – becomes indispensable when using DNA or protein sequences to estimate phylo- genetic relationships among taxa. Models of evolution are sets of assumptions about the process of nucleotide or amino acid substitution (see Chapters 4 and 9). They describe the different probabilities of change from one nucleotide or amino acid to another along a phylogenetic tree, allowing us to choose among different phylogenetic hypotheses to explain the data at hand. Comprehensive reviews of models of evolution are offered elsewhere (Swofford et al., 1996;Lio` & Goldman, 1998). As discussed in the previous chapters, phylogenetic methods are based on a number of assumptions about the evolutionary process. Such assumptions can be implicit, like in parsimony methods (see Chapter 8), or explicit, like in distance or maximum likelihood methods (see Chapters 5 and 6, respectively). The advantage of making a model explicit is that the parameters of the model can be estimated. Distance methods can only estimate the number of substitutions per site. However, maximum likelihood methods can estimate all the relevant parameters of the model of evolution. Parameters estimated via maximum likelihood have desirable statistical properties: as sample sizes get large, they converge to the true value and The Phylogenetic Handbook: a Practical Approach to Phylogenetic Analysis and Hypothesis Testing, Philippe Lemey, Marco Salemi, and Anne-Mieke Vandamme (eds.). -
Clustering and Phylogenetic Approaches to Classification: Illustration on Stellar Tracks Didier Fraix-Burnet, Marc Thuillard
Clustering and Phylogenetic Approaches to Classification: Illustration on Stellar Tracks Didier Fraix-Burnet, Marc Thuillard To cite this version: Didier Fraix-Burnet, Marc Thuillard. Clustering and Phylogenetic Approaches to Classification: Il- lustration on Stellar Tracks. 2014. hal-01703341 HAL Id: hal-01703341 https://hal.archives-ouvertes.fr/hal-01703341 Preprint submitted on 7 Feb 2018 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Clustering and Phylogenetic Approaches to Classification: Illustration on Stellar Tracks D. Fraix-Burnet1, M. Thuillard2 1 Univ. Grenoble Alpes, CNRS, IPAG, 38000 Grenoble, France email: [email protected] 2 La Colline, 2072 St-Blaise, Switzerland February 7, 2018 This pedagogicalarticle was written in 2014 and is yet unpublished. Partofit canbefoundin Fraix-Burnet (2015). Abstract Classifying objects into groups is a natural activity which is most often a prerequisite before any physical analysis of the data. Clustering and phylogenetic approaches are two different and comple- mentary ways in this purpose: the first one relies on similarities and the second one on relationships. In this paper, we describe very simply these approaches and show how phylogenetic techniques can be used in astrophysics by using a toy example based on a sample of stars obtained from models of stellar evolution. -
Phylogenetics
Phylogenetics What is phylogenetics? • Study of branching patterns of descent among lineages • Lineages – Populations – Species – Molecules • Shift between population genetics and phylogenetics is often the species boundary – Distantly related populations also show patterning – Patterning across geography What is phylogenetics? • Goal: Determine and describe the evolutionary relationships among lineages – Order of events – Timing of events • Visualization: Phylogenetic trees – Graph – No cycles Phylogenetic trees • Nodes – Terminal – Internal – Degree • Branches • Topology Phylogenetic trees • Rooted or unrooted – Rooted: Precisely 1 internal node of degree 2 • Node that represents the common ancestor of all taxa – Unrooted: All internal nodes with degree 3+ Stephan Steigele Phylogenetic trees • Rooted or unrooted – Rooted: Precisely 1 internal node of degree 2 • Node that represents the common ancestor of all taxa – Unrooted: All internal nodes with degree 3+ Phylogenetic trees • Rooted or unrooted – Rooted: Precisely 1 internal node of degree 2 • Node that represents the common ancestor of all taxa – Unrooted: All internal nodes with degree 3+ • Binary: all speciation events produce two lineages from one • Cladogram: Topology only • Phylogram: Topology with edge lengths representing time or distance • Ultrametric: Rooted tree with time-based edge lengths (all leaves equidistant from root) Phylogenetic trees • Clade: Group of ancestral and descendant lineages • Monophyly: All of the descendants of a unique common ancestor • Polyphyly: