The Evolution of Mammalian Gene Families

JP Demuth, TEP De Bie, JE Stajich, N Cristianini, MW Hahn

Research output: Contribution to journalArticle (Academic Journal)peer-review

209 Citations (Scopus)


Gene families are groups of homologous genes that are likely to have highly similar functions. Differences in family size due to lineage-specific gene duplication and gene loss may provide clues to the evolutionary forces that have shaped mammalian genomes. Here we analyze the gene families contained within the whole genomes of human, chimpanzee, mouse, rat, and dog. In total we find that more than half of the 9,990 families present in the mammalian common ancestor have either expanded or contracted along at least one lineage. Additionally, we find that a large number of families are completely lost from one or more mammalian genomes, and a similar number of gene families have arisen subsequent to the mammalian common ancestor. Along the lineage leading to modern humans we infer the gain of 689 genes and the loss of 86 genes since the split from chimpanzees, including changes likely driven by adaptive natural selection. Our results imply that humans and chimpanzees differ by at least 6% (1,418 of 22,000 genes) in their complement of genes, which stands in stark contrast to the oft-cited 1.5% difference between orthologous nucleotide sequences. This genomic 'revolving door' of gene gain and loss represents a large number of genetic differences separating humans from our closest relatives.
Translated title of the contributionThe Evolution of Mammalian Gene Families
Original languageEnglish
Pages (from-to)1 - 10
Number of pages10
JournalPLoS ONE
Volume1 (e85)
Publication statusPublished - Dec 2006

Bibliographical note

Publisher: Public Library of Science

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