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

Matthew E. Johnson, Luigi Viggiano, Jeffrey A. Bailey, Munah Abdul-Rauf, Graham Goodwin, Mariano Rocchi and Evan E. Eichler ()
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Matthew E. Johnson: Case Western Reserve University School of Medicine and University Hospitals of Cleveland
Luigi Viggiano: DAPEG, Sezione di Genetica
Jeffrey A. Bailey: Case Western Reserve University School of Medicine and University Hospitals of Cleveland
Munah Abdul-Rauf: Section of Molecular Carcinogenesis, Institute of Cancer Research, Haddow Laboratories
Graham Goodwin: Section of Molecular Carcinogenesis, Institute of Cancer Research, Haddow Laboratories
Mariano Rocchi: DAPEG, Sezione di Genetica
Evan E. Eichler: Case Western Reserve University School of Medicine and University Hospitals of Cleveland

Nature, 2001, vol. 413, issue 6855, 514-519

Abstract: Abstract Gene duplication followed by adaptive evolution is one of the primary forces for the emergence of new gene function1. 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.

Date: 2001
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DOI: 10.1038/35097067

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