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PMID: 11586358 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.

Positive selection of a gene family during the emergence of humans and African apes.

Nature ·Vol. 413 ·No. 6855 ·2001-10-04 ·Pages 514-9

Johnson ME, Viggiano L, Bailey JA, Abdul-Rauf M, Goodwin G, Rocchi M, Eichler EE

Abstract

Gene duplication followed by adaptive evolution is one of the primary forces for the emergence of new gene function. Here we describe the recent proliferation, transposition and selection of a 20-kilobase (kb) duplicated segment throughout 15 Mb of the short arm of human chromosome 16. The dispersal of this segment was accompanied by considerable variation in chromosomal-map location and copy number among hominoid species. In humans, we identified a gene family (morpheus) within the duplicated segment. Comparison of putative protein-encoding exons revealed the most extreme case of positive selection among hominoids. The major episode of enhanced amino-acid replacement occurred after the separation of human and great-ape lineages from the orangutan. Positive selection continued to alter amino-acid composition after the divergence of human and chimpanzee lineages. The rapidity and bias for amino-acid-altering nucleotide changes suggest adaptive evolution of the morpheus gene family during the emergence of humans and African apes. Moreover, some genes emerge and evolve very rapidly, generating copies that bear little similarity to their ancestral precursors. Consequently, a small fraction of human genes may not possess discernible orthologues within the genomes of model organisms.

MeSH Terms
Animals Chromosomes, Human, Pair 16 Evolution, Molecular Gene Duplication Hominidae/genetics Humans Molecular Sequence Data Multigene Family Phylogeny Selection, Genetic Sequence Analysis, DNA
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Johnson M E
Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.
Viggiano L
Bailey J A
Abdul-Rauf M
Goodwin G
Rocchi M
Eichler E E
Article Info
Journal
Nature
Abbr.
Nature
ISSN
0028-0836
Published
2001-10-04
Pages
514-9
Language
English
Region
England
NLM ID
0410462
Subset
IM
Grants
Telethon · C.50 · Italy
Databases
GENBANK
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