Handbook of Human Molecular Evolution, 2 Volume Set

"This splendid compendium ... will be the standard reference work for years to come: a handbook to browse, to consult, to look things up in, and to read with pleasure, wonder and post-Darwinian exhilaration."
—Richard Dawkins

"This is a marvellous book… It should be in every university library - preferably in several copies - and every reader of this journal should add it to their next grant application. It really is that good.... I have already found this book to be invaluable.... For many years to come, these two volumes will be the starting point for anyone wishing to find out about virtually any subject relating to human genetics.... Any scientist working on humans or other animals will find many things in these pages that will stimulate, inform and inspire. The authors, editors and publishers are to be congratulated for their work… order a copy now!"
—HUMAN GENETICS

"The publishers and editors deserve to be congratulated for publishing this major book which coincides with the 200^th anniversary of the birth of Charles Darwin. The book is well-timed, with biologists, theologians and sociologists engaged in intense debate on the Darwinian Theory on the origin of species, evolution and natural selection… There is little doubt that this marvellous publication should be in the library of universities and academic institutions dealing with basic and applied biology research and education.... It will not be surprising if the individual academic or researcher decides to invest in this resource and enrich their personal collection of leading books in genetics and genomics."
—GENOMIC MEDICINE

A Unique Collection of High-Quality Articles – Derived from the Acclaimed Encyclopedia of Life Sciences 

The revolution in human molecular genetics which has taken place over the last three decades has yielded a wealth of information not only on the structure and function of our genes, but also on gene expression, mutation and polymorphic variation. Over the last five years, the focus has moved from genes to genomes. Even though the annotation of our ~30,000 genes is still in progress, genome-wide studies have already yielded abundant evidence for the signatures of past selection and adaptive evolution within human gene sequences. Further, the completion of the sequencing of the 3 billion base-pair human genome, coupled with the increasing availability of other vertebrate genome sequences, has ushered in a new era of comparative genomics. We are now able to identify many of the molecular events (from the chromosomal level down to the single base-pair) that have occurred during vertebrate, mammalian, primate and hominid evolution. Indeed, the detailed comparison of the human and chimpanzee genomes has begun to reveal some of the genetic changes that have been involved in the development of human lineage-specific traits. We are thus acquiring the ability to ask searching questions about our origins, about the demographic processes associated with the global radiation of humankind, as well as some of the unique adaptations that make us human.

Evolutionary biology has become so broad that its impact may be felt across the spectrum of the biological sciences. The aim of the Handbook of Human Molecular Evolution is relatively straightforward: to bring together under the same cover the many and varied strands of our knowledge of human/primate/vertebrate molecular evolution. Hence, the 282 chapters that comprise this essential reference work have been thematically arranged into twelve sections, covering the whole scope of research into human molecular evolution:

General Concepts in Evolutionary Genetics
Mutation, Adaptation and Natural Selection
Evolutionary and Population Genetics
Human Evolution
Human Genome Evolution
Evolution of Human Gene Structure and Function
Evolution of Gene Expression
Mitochondrial Genome Evolution
Chromosomal Evolution
Comparative Genomics
Evolution and Disease Susceptibility
Analysis of Ancient DNA 

This conceptual outline informed the selection of the chapters themselves and the connections between them. Some of these chapters are intended to be introductory, aimed at undergraduates and non-specialists. They provide basic information and a list of recommended further reading to encourage the reader to explore a topic in more depth. This approach helps the student reader progress from textbook material to primary literature. Some chapters are overviews that address topics of broad interest and importance, while others focus on quite specialized topics. These chapters are written for postgraduate students and research workers; they contain more detailed information and key references allowing the reader to investigate a specific area in more depth. This format allows professionals to use the books as a quick reference source.  The chapters are richly supplied with website information to allow access to relevant data sources over the internet. The self-contained, peer-reviewed articles in this unique handbook have been written by leading scientists in each field.

Key topics include the evolution of enzyme function, the use of nucleic acid divergence as a "molecular clock", the origin of non-functional or junk DNA, the role of gene duplication in the emergence of novel gene function and the identification of molecular changes responsible for various human characteristics especially those pertaining to infection, cognition, disease and disease susceptibility.

The Handbook of Human Molecular Evolution has adopted an integrated approach to the study of human evolution and seeks throughout to emphasize the interplay between molecular genetic concepts and principles on the one hand, and information acquisition and interpretation on the other. In this way, it is hoped that the 'documents of evolutionary history' written into the fabric of our genome, will become accessible to the widest possible audience.

General Concepts in Evolutionary Genetics

Views of Evolution
James F Crow

Evolution: Selectionist View
Andreas Wagner

Evolution: Neutralist View
Andreas Wagner

The Neo-selectionist Theory of Genome Evolution
Giorgio Bernardi

Fitness and Selection
Brian Charlesworth

Genetic Drift in Human Populations
Andrew J Bohonak

Heterozygosity
Wen-Hsiung Li

Effective Population Size
Michael C Whitlock

Population Differentiation: Measures
Stefano Mona, Giorgio Bertorelle

Evolutionary Distance
Wen-Hsiung Li

Gene Trees and Species Trees
Wen-Hsiung Li

Homologous, Orthologous and Paralogous Genes
Wen-Hsiung Li

Evolution: Convergent and Parallel Evolution
Caro-Beth Stewart

Mutation, Adaptation and Natural Selection

Genetic Variation: Polymorphisms and Mutations
Alan F Wright

Polymorphisms: Origins and Maintenance
Kenneth M Weiss

Molecular Evolution: Introduction
David Penny

Molecular Evolution: Overview
Jan Klein

Molecular Evolution: Genetics of Adaptation
Michael Travisano

Neutral Theory of Molecular Evolution
Naoyuki Takahata

Molecular Evolution: Nearly Neutral Theory
Tomoko Ohta

Molecular Evolution: Rates
Lindell Bromham

Molecular Evolution: Patterns and Rates
Lindell Bromham

Nucleotide Substitution: Rate of
Wen-Hsiung Li

Synonymous and Nonsynonymous Rates
Soojin Yi

Mutational Change in Evolution
Dan Graur

Mutations and New Variation: Overview
Mark O Johnston

Single-base Mutation
Dan Graur

Mutation Rate
Bertram Müller-Myhsok

Mutation Rates: Evolution
David Metzgar

Spectrum of Mutations in the Human Genome Inferred by Single Nucleotide Polymorphisms
Zhao Zhongming

Mutational Biases
Lev Y Yampolsky, Arlin Stoltzfus

Mutations: Dating
Roberto Colombo

Diffusion Theory
Gil McVean

Molecular Clocks in Mammals
Wen-Hsiung Li, Kateryna D Makova

Molecular Clocks
Andrew Peter Martin

Purifying Selection: Action on Silent Sites
R Nielsen, H Akashi

Selection against Amino Acid Replacements in Human Proteins
Sankar Subramanian

Identifying Regions of the Human Genome that Exhibit Evidence for Positive Selection
Ryosuke Kimura, Jun Ohashi

Positive Selection on Genes in Humans as Compared to Chimpanzees
Margaret A Bakewell, Jianzhi Zhang

Selection Operating on Protein-coding Genes in the Human Genome
Diogo Meyer, Eugene E Harris

Selective and Structural Constraints
Austin L Hughes

Substitution Matrices
Stephen F Altschul

Fixation Probabilities and Times
Sarah P Otto, Michael C Whitlock

Genetic Code: Evolution
Edward N Trifonov

Codon Usage in Molecular Evolution
Richard L Grantham

Linkage Disequilibrium
Peter JP Croucher

Recombination and Human Genetic Diversity
Chris CA Spencer

Comparison of Rates and Patterns of Meiotic Recombination between Human and Chimpanzees
Jan Freudenberg

Rapid Evolution of Genes on the Human X-chromosome
Erika M Kvikstad, Kateryna D Makova

Evolutionary and Population Genetics

Gene Flow, Haplotype Patterns and Modern Human Origins
Alan R Templeton

HapMap Project
Bryan J Traynor, Andrew Singleton

Migration
Guido Barbujani

Nonrandom Mating
Dennis H O'Neil

Human Population Stratification and its Assessment by Microarray Genotyping
Marc Bauchet

Sequence Alignment
Julie D Thompson, Olivier Poch

Sequence Similarity
Jaap Heringa

Phylogenetics
Wen-Hsiung Li

Phylogenetic Footprinting
Wyeth W Wasserman, Wynand Alkema

Molecular Phylogeny Reconstruction
Sudhir Kumar, Alan Filipski

Evolutionary Distance: Estimation
Masatoshi Nei, Jianzhi Zhang

Coalescent Theory
Simon Tavaré

Stationary Allele Frequency Distributions
Bruce Rannala

Developmental Evolution
Susan Lindsay

Morphological Diversity: Evolution
Graham Budd

Male-driven Evolution
Hans Ellegren

Coevolution: Molecular
Ronald M Adkins

Concerted Evolution
Daiqing Liao

Sociobiology, Evolutionary Psychology and Genetics
Patrick Bateson

Are Humans Still Evolving?
Floyd A Reed

Human Evolution

Hominids: Molecular Phylogenetics
Ulfur Arnason, Morgan Kullberg

Human Evolution: Overview
Bernard A Wood

Molecular Clocks: Determining the Age of the Human--Chimpanzee Divergence
Michael I Jensen-Seaman, Kathryn A Hooper-Boyd

On the Number of Ancestral Human Species
Darren Curnoe

Human Evolution: Early Radiations
Bernard A Wood

Human Evolution: Radiations in the Last 300000 Years
Osbjorn M Pearson

Modern Humans: Origin and Evolution
Todd R Disotell

Modern Human Origins: The `Out of Africa' Debate
John H Relethford

Origin of Modern Humans: Interpreting the Molecular Evidence
Henry C Harpending

Human Populations: Evolution
Rebecca L Cann

Human Populations: Origins and Evolution
Rosalind M Harding, John H Relethford

Humans: Demographic History
Henry Harpending

DNA Markers and Human Evolution
Rebecca L Cann

Reconstructing Human History Using Autosomal, Y-Chromosomal and Mitochondrial Markers
Bryndis Yngvadottir, Denise R Carvalho-Silva

Population History and Linkage Disequilibrium
Sebastian Zollner

Human Population Genetics: Drift and Migration
Ranajit Chakraborty

Human Genetics and Languages
David Comas, Elena Bosch, Francesc Calafell

Surnames and Genetics
Mark A Jobling

Population History of Europe: Genetics
Guido Barbujani

Genetic Diversity in Africa
Alicia Sanchez-Mazas, Estella S. Poloni

Genetic Diversity in the German Population
Michael Krawczak, Timothy T Lu, Sascha Willuweit, Lutz Roewer

Genetics and the History of the Basque People
Santos Alonso

Genetics and the Origins of the British Population
Martin Richards, Cristian Capelli, James F Wilson

Genetics and the Origins of the Chinese
Qing-Peng Kong, Hui Pan, Ya-Ping Zhang

Genetics and the Origins of the Finns
Reijo Norio

Genetics and the Origins of the Irish
Brian McEvoy, Daniel G Bradley

Genetics and the Origins of the Polynesians
Geoffrey K Chambers

Origins of the Australian and New Guinean Aborigines
Sheila M van Holst Pellekaan

Origins of the Austro-Asiatic Populations
B Mohan Reddy, Vikrant Kumar

Peopling of India: Insights from Genetics
Partha P Majumder

Population Genetics of the Ashkenazim
Marina Faerman

Roma (Gypsies): Genetic Studies
Bharti Morar, Luba Kalaydjieva

The Peopling of the Americas as Revealed by Molecular Genetic Studies
Theodore G Schurr

Primates and the Origin of Culture
WC McGrew

Human Genome Evolution

Evolution of Genome Organization
Wolfgang Stephan

Genome Organization of Vertebrates
Giorgio Bernardi

Evolutionary History of the Human Genome
Giorgio Bernardi

Sequencing the Human Genome: Novel Insights into its Structure and Function
Hildegard Kehrer-Sawatzki, David N Cooper

Single Nucleotide Polymorphism (SNP)
Anthony J Brookes

Human Genetic Diversity
Lynn B Jorde

Human and Chimpanzee Nucleotide Diversity
Henrik Kaessmann

Divergence between the Human and Chimpanzee Genomes and its Impact on Protein and Transcriptome Evolution
Hildegard Kehrer-Sawatzki, David N Cooper

Indels in the Evolution of the Human and Chimpanzee Genomes
Anna Wetterbom, Lucia Cavelier, Tomas F Bergström

Inferring the Process of Human--Chimpanzee Speciation
K Ryo Takahasi, Hideki Innan

Human Genome Diversity Project (HGDP)
Morris W Foster

Blocks of Limited Haplotype Diversity
Newton E Morton

Gene Conversion during Primate Evolution
Yoko Satta

Biased Gene Conversion and its Impact on Human Genome Evolution
Nicolas Galtier, Laurent Duret

Repetitive DNA: Evolution
Wolfgang Stephan, J Bruce Walsh

Simple Sequence Repeats in the Human Genome: Evolution
Donald E Riley, John N Krieger

Evolution of Microsatellite DNA
Iris M Vargas Jentzsch, Andrew Bagshaw, Emmanuel Buschiazzo, Angelika Merkel, Neil J Gemmell

Evolution of Alpha Satellite DNA
Duroica Ugarkovic

Comparative Genetics of Trinucleotide Repeats in the Human and Ape Genomes
Loris Mularoni, Macarena Toll-Riera, M Mar Albà

Endogenous Retroviral Sequences; their Evolutionary Contribution to the Human Genome
Jens Mayer

Human Endogenous Retroviruses; Evolutionary Dynamics, Chromosomal Location and Host Benefit
Paul Nelson, Graham Freimanis, Denise Roden

Evolutionary History and Impact of Human DNA Transposons
Cédric Feschotte

Evolution of Human Retrosequences: Alu
Astrid M Roy-Engel, Mark A Batzer, Prescott L Deininger

Long Interspersed Nuclear Elements (LINEs): Evolution
Anthony V Furano, Stéphane Boissinot

Bacterial DNA in the Human Genome
Jan O Andersson

Chromosome-specific Repeats (Low-copy Repeats)
M-C Potier, G Golfier, EE Eichler

Telomere
Christa Lese Martin, David H Ledbetter

Telomeric and Subtelomeric Repeat Sequences
Dmitri Churikov, Carolyn M Price

Subtelomeres: Evolution in the Human Genome
M Katharine Rudd

The Evolution of Centromeric DNA Sequences
Joshua J Bayes, Harmit S Malik

Segmental Duplications and Their Role in the Evolution of the Human Genome
Yali Xue, Chris Tyler-Smith

Copy Number Variation in the Human Genome
Hildegard Kehrer-Sawatzki

Gene Duplication: Evolution
Wen-Hsiung Li

Gene Families: Formation and Evolution
Tomoko Ohta

Gene Families: Multigene Families and Superfamilies
Tomoko Ohta

Gene Clustering in Eukaryotes
Jeffrey G Lawrence, Thomas Blumenthal

Clustering of Highly Expressed Genes in the Human Genome
Hinco J Gierman, Rogier Versteeg

Gene Distribution in Human Chromosomes
Giorgio Bernardi, Salvatore Saccone

Evolution of Gene Deserts in the Human Genome
James Taylor

The Impact of Gene Duplication on Human Genome Evolution
James A Cotton

Genetic Redundancy
David C Krakauer

DNA Methylation: Evolution
Aharon Razin, Ruth Shemer

Evolution of Imprinting: Imprinted Gene Function in Human Disease
Benjamin JA Dickins, Gavin Kelsey

Imprinting: Evolution
Hamish G Spencer

Epigenetic Variation in Humans
Jon F Wilkins

Dosage Compensation Mechanisms: Evolution
Ignacio Marín

Evolution of X-chromosome Inactivation
Alexander I Shevchenko, Suren M Zakian

Ultraconserved DNA Sequence Elements in the Human Genome
Alison P Lee, B Venkatesh

The Biological Significance of Conserved Non-Generic DNA
Emmanouil T Dermitzakis

Evolutionarily Conserved Noncoding DNA
Anil G Jegga, Bruce J Aronow

Human-specific Accelerated Evolution of Noncoding Sequences
Matthew T Webster

Rapidly Evolving Regions of the Human Genome
Subhash Mohan Agarwal

GC-Rich Isochores in the Interphase Nucleus
Salvatore Saccone, Giorgio Bernardi

Evolution of Human Gene Structure and Function

Gene Structure: Evolution
Tomoko Ohta

Gene Evolution and Human Adaptation
Eugene E Harris

The Evolution of Introns in Human Genes
Elodie Gazave, Olga Fernando, Arcadi Navarro

Intron Evolution in Duplicated Human Genes
Kamel Jabbari, Edda Rayko

Intron Loss and Gain
Tobias Mourier, Daniel C Jeffares

Introns: Movements
Manyuan Long, Rüdiger Cerff

Introns: Phase Compatibility
László Patthy

Evolutionarily Conserved Intronic Splicing Regulatory Elements in the Human Genome
Eric L Van Nostrand, Gene W Yeo

Evolutionary Conservation of Splice Sites
Michelle L. Hastings, Ravi Sachidanandam

Alternative Splicing: Evolution
László Patthy

Alternative Splicing in the Human Genome and its Evolutionary Consequences
Liliana Florea

Dual-coding Regions in Alternatively Spliced Human Genes
Han Liang, Laura F Landweber

Birth and Evolution of Human Exons
Maria Dulcetti Vibranovski, Noboru Jo Sakabe, Manyuan Long

Exons and Protein Modules
László Patthy

Insertion and Deletion of Exons During Human Gene Evolution
David N Cooper

Exons: Shuffling
László Patthy

Pseudoexons
Manyuan Long

Domain Duplication and Gene Elongation

Wen-Hsiung Li
Kateryna D Makova

The Contribution of Frameshift Translation to the Generation of Novel Human Proteins
Kohji Okamura, Stephen W Scherer

Transposable Element-driven Duplications during Hominoid Genome Evolution
Bud Mishra

The Contribution of Transposable Elements to Human Proteins
Jean-Nicolas Volff

Evolutionary Emergence of Genes Through Retrotransposition
Richard Cordaux, Mark A Batzer

Multigene Families: Evolution
J Bruce Walsh, Wolfgang Stephan

Paralogous Genes and Chromosomal Regions
Lars-Gustav Lundin, Dan Larhammar, Finn Hallböök

Bi-directional Gene Pairs in the Human Genome
Kanako O Koyanagi, Tadashi Imanishi, Takashi Gojobori

Gene Fusion
Esther Betrán

Protein Families: Evolution
Richard R Copley

Fibroblast Growth Factors: Evolution
David M Ornitz

Globin Genes: Evolution
Ross C Hardison

Hox Genes and Body Plan: Evolution
Ella Tour, William McGinnis

Pax Genes: Evolution and Function
Maxime Bouchard, Alexander Schleiffer, Frank Eisenhaber, Meinrad Busslinger

Low-density Lipoprotein Receptor (LDLR) Family: Genetics and Evolution
Wolfgang Johann Schneider

Major Histocompatibility Complex (MHC) Genes: Evolution
Austin L Hughes

Major Histocompatibility Complex (MHC) Genes: Polymorphism

Diogo Meyer
Steven J Mack

Vertebrate Immune System: Evolution
Austin L Hughes

Evolution of the Human Immune System
Nadia Danilova

Complement System: Evolution
Masaru Nonaka

Somatic Hypermutation of Antigen Receptor Genes: Evolution
Marilyn Diaz, Laurent K Verkoczy

Neuropeptides and their Receptors: Evolution
Charles HV Hoyle

Nuclear Receptor Genes: Evolution
Gareth I Owen

Olfactory Receptor Genes: Evolution
Yoshihito Niimura

Visual Pigment Genes: Evolution
Shozo Yokoyama

Bitter Taste Sensitivity in Humans and Chimpanzees
Maik Behrens, Wolfgang Meyerhof

Evolution of Skin Pigmentation Differences in Humans
Heather Norton

Population Genetics of Lactase Persistence and Lactose Intolerance
Catherine Janet Ellen Ingram, Dallas Mary Swallow

Defensins: Evolution
Austin L Hughes

Cystic Fibrosis Transmembrane Conductance Regulator Sequences: Comparative Analysis
Jian-Min Chen, Guillaume Lecointre, Erick Denamur, Claude Férec

ATP-binding Cassette (ABC) Transporter Supergene Family: Genetics and Evolution
Michael Dean

Proteases: Evolution
Christopher Southan

Serpins: Evolution
Gary A Silverman, David J Askew, James A Irving, Cliff J Luke, Dion Kaiserman, Phillip I Bird, James C Whisstock

Adaptive Evolution of Primate Sperm Proteins
Nathaniel L Clark

Drug Metabolism: Evolution
Daniel W Nebert

rRNA Genes: Evolution
Iris L Gonzalez, James E Sylvester

MicroRNA Evolution in the Human Genome
Bing Su, Rui Zhang

Pseudogene Evolution in the Human Genome
Zhaolei Zhang, Deyou Zheng

Human Lineage-specific Gene Inactivation
Wendy E Grus, Jianzhi Zhang

Pseudogenes: Age
Allen R Rhoads, Felix Friedberg

Pseudogenes: Patterns of Mutation
Rosa Martínez-Arias, Francesc Calafell, Jaume Bertranpetit

Processed Pseudogenes and Their Functional Resurrection in the Human and Mouse Genomes
Hiroaki Sakai, Takeshi Itoh, Takashi Gojobori

Evolution of Gene Expression

Transcriptional Regulation: Evolution
Gregory A Wray

Promoters: Evolution
Deborah L Gumucio

Evolution of Human Gene Expression Control
Courtney C Babbitt, Gregory A Wray

Positive Selection and the Evolution of Prodynorphin
Matthew V Rockman

Human Transcriptome Evolution
Xun Gu, Yong Huang

Evolution of Gene Expression in Human and Chimpanzee Brains
Naoki Osada, Sugano Sumio, Yutaka Suzuki

Human and Chimpanzee Transcriptomes: Comparative Evolution
Philipp Khaitovich, David Cooper, Hildegard Kehrer-Sawatzki

Human and Macaque Transcriptiomes: A comparison
Stephen J Walker

Transcription Factor-binding Sites: Recent Evolution in the Human Lineage
Berthold Göttgens

Alternative Polyadenylation in the Human Genome: Evolution
Bin Tian

Mitochondrial Genome Evolution

Mitochondrial Genome: Evolution
Mark Stoneking

Mitochondrial Non-Mendelian Inheritance: Evolutionary Origin and Consequences
C William Birky Jr

Mitochondrial Genome Sequences and Their Phylogeographic Interpretation
Vincent Macaulay, Martin Richards

Mitochondrial Origins of Human Nuclear Genes and DNA Sequences
William F Martin

Chromosomal Evolution

Chromosomes in Mammals: Diversity and Evolution
Johannes Wienberg, Stefan Müller

Chromosome Numbers in Mammals
Harry Scherthan

Chromosome Rearrangement Patterns in Mammalian Evolution
Johannes Wienberg, Stefan Müller

Hotspots of Mammalian Chromosome Evolution
Lutz Froenicke, Leslie A Lyons

Chromosomal Rearrangements in Primates
Roscoe Stanyon, Francesca Bigoni

Chromosomal Rearrangements in the Human and Chimpanzee Lineages
Hildegard Kehrer-Sawatzki, David N Cooper

Human Chromosome Evolution
Gerald P Holmquist, Johannes Wienberg

Polyploid Origin of the Human Genome
Masanori Kasahara

Chromatin Structure and Human Genome Evolution
Colin AM Semple

Mammalian Sex Chromosome Evolution
Gerald J Wyckoff, Christine M Malcom

Evolution of the Mammalian X Chromosome
Paul D Waters, Terence J Robinson

Y Chromosome Evolution
Vladimir A Gvozdev

X and Y Chromosomes: Homologous Regions
Nisrine El-Moghabel, Jennifer A M Graves

Evolution of Common Fragile Sites
Anne Helmrich

Comparative Genomics

Comparative Cytogenetics
Matthew Breen, Cordelia Langford

Comparative Cytogenetics Technologies
Stefan Müller, Johannes Wienberg

Reconstruction of Ancestral Genomes
Roscoe Stanyon, Fiorella Garofalo, Francesca Bigoni

Comparative Human Genomics
I King Jordan, Eugene V Koonin

Orthologues, Paralogues and Xenologues in Human and Other Genomes
Olga Zhaxybayeva, J Peter Gogarten, Lorraine Olendzenski

Comparing the Human and Sea Urchin Genomes
R Andrew Cameron

Comparing the Human and Fish Genomes
Yoichiro Nakatani, Shinichi Morishita

Comparing the Human and Medaka Genomes
Takashi Sasaki, Nobuyoshi Shimizu

Fugu: The Pufferfish Model Genome
B Venkatesh

The Mouse Genome as a Rodent Model in Evolutionary Studies
Jessica Vamathevan, Joanna D Holbrook, Richard D Emes

The Rat Genome as a Rodent Model in Evolutionary Studies
Kim Fechtel

Comparing the Human and Canine Genomes
Marek Switonski, Izabela Szczerbal

Primate Phylogenetics
Todd R Disotell

The Sequencing of the Rhesus Macaque Genome and its Comparison with the Genome Sequences of Human and Chimpanzee
Richard A Gibbs, Kim C Worley, Hildegard Kehrer-Sawatzki, David N Cooper

The Chimpanzee Genome Project
David N Cooper, Hildegard Kehrer-Sawatzki

Comparing the Human and Chimpanzee Genomes
Monica Uddin, Derek E Wildman, Morris Goodman

Nucleotide Sequence Divergence between Humans and Chimpanzees
Feng-Chi Chen, Trees-Juen Chuang

Human-specific Changes of Genome Structure
R Alan Harris, Aleksandar Milosavljevic

Evolution and Disease Susceptibility

Evolutionary Thinking in the Medical Sciences
Stephen C Stearns

Darwinian Medicine
George C Williams

Pathological Missense Mutations Provide New Insights into the Evolution of Trypsinogen Genes
Jian-Min Chen, David N Cooper, Claude Férec

Balancing Selection in Human Evolution
Eric J Vallender, Welkin E Johnson

Selective Constraints on Human Disease Mutations and Polymorphisms
Hernán Dopazo

Genetic of Large Populations and Association Studies
Pauline Hélène Garnier-Géré, Lounès Chikhi

Genetic Disease in the Ashkenazim: Role of a Founder Effect

Inbal Kedar-Barnes, Paul Rozen, Mordechai Shohat
Hagit N Baris

Single Nucleotide Polymorphisms in Human Disease and Evolution: Phylogenies and Genealogies
Paul D Thomas

Structural Diversity of the Human Genome and Disease Susceptibility
Richard S Smith, María Gutiérrez-Arcelus, Charles W Tran, Stephanie Park, Cheryn J Couter, Charles Lee

Segmental Duplications and Genetic Disease
Beverly S Emanuel, Tamim H Shaikh

Genetics of Susceptibility to Human Infectious Diseases
Richard A Kaslow, Sadeep Shrestha, Jianming 'James' Tang

The Genetics of Malarial Resistance and Susceptibility
Brian C Verrelli

The Evolution of Fatness and Susceptibility to Obesity
Jonathan CK Wells

Thrifty Genotype Hyphothesis and Complex Genetic Disease
Pnina Varidi, Konstantin Bloch

An Evolutionary Framework for Common Disease
Francesca Luca, Anna Di Rienzo

On Sequence Variants that Influence the Risk of Common Diseases
Kári Stefánsson, Jeffrey R Gulcher

An Evolutionary Genetic Framework for Heritable Disorders
Matthew C Keller

Analysis of Ancient DNA

Ancient DNA: Recovery and Analysis
Susanne Hummel

Ancient DNA: Phylogenetic Applications
Michael Knapp, Linda Vigilant, Michael Hofreiter

Neanderthal Mitochondrial DNA
William Goodwin, Igor Ovchinnikov

Reconstructing Ancient DNA Sequences in Silico
Jian Ma

David N. Cooper has been Professor of Human Molecular Genetics at Cardiff University since 1996. His research interests focus largely on molecular mechanisms of mutagenesis and genotype-phenotype relationships in a variety of different inherited disorders, population genetics, gene expression, cancer genetics, growth hormone genetics, and molecular evolution. He has written or co-authored Human Gene Mutation (1993), The Molecular Genetics of Haemostasis and Its Inherited Disorders (1994), Venous Thrombosis: From Genes to Clinical Medicine (1997), Human Gene Evolution (1999) and The Molecular Genetics of Lung Cancer (2005). He has also co-edited The Functional Analysis of the Human Genome (1995), Gene Therapy (1996), Neurofibromatosis Type 1: From Genotype to Phenotype (1998) and Fascioscapulohumeral Muscular Dystrophy: Clinical Medicine and Molecular Cell Biology (2004). He acted as Editor-in-Chief of the Nature Encyclopedia of the Human Genome (2003) and is currently Editor of the Genetics & Disease section of the Wiley Encyclopedia of Life Sciences. He has been European Editor of the journal Human Genetics since 1997 and Curator of the Human Gene Mutation Database (www.hgmd.org) since 1996.

Hildegard Kehrer Sawatzki is a Senior Research Fellow in the Institute of Human Genetics, University of Ulm, Germany where she has been a group leader since 2000. She has published extensively in the field of molecular medicine and molecular evolution. Alongside her long-term work on the tumour predisposition syndrome, type 1 neurofibromatosis, she has developed a keen interest in the comparative analysis of the human, chimpanzee and macaque genomes in order to identify inter-species genetic differences, particularly those which are human-specific. She has characterized, at the molecular level, the microscopically-visible chromosomal differences between human and chimpanzee known as pericentric inversions. In addition, she has performed detailed genomic comparisons which have contributed to the identification of the hundreds of small submicroscopic inversions, insertions, deletions and copy number differences that are largely responsible for the genetic divergence of the primates. In 2007, she received the Merckle Research Prize for her work on evolutionary and disease-associated chromosomal breakpoints.
David Cooper and Hildegard Kehrer-Sawatzki are the ELS section editors for Genetics & Disease and Evolution & Diversity of Life, respectively.

"This splendid compendium... will be the standard reference work for years to come: a handbook to browse, to consult, to look things up in, and to read with pleasure, wonder and post-Darwinian exhilaration."
—Richard Dawkins

"This is a marvellous book.... For many years to come, these two volumes will be the starting point for anyone wishing to find out about virtually any subject relating to human genetics." (Human Genetics)

"The publishers and editors deserve to be congratulated for publishing this major book which coincides with the 200^th anniversary of the birth of Charles Darwin." (Genomic Medicine)