David N. Cooper

Hildegard Kehrer-Sawatzki

"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 200th 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.

Handbook of Human Molecular Evolution, 2 Volume Set

Michael Krawczak

Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.

David N. Cooper

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