Faculty of 1000 Biology | Population genetic and phylogenetic evidence for positive selection on regulatory mutations at the factor VII locus in humans.

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23-May-2005

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Population genetic and phylogenetic evidence for positive selection on regulatory mutations at the factor VII locus in humans.
Hahn MW, Rockman MV, Soranzo N, Goldstein DB, Wray GA
Genetics 2004 Jun 167(2):867-77 [abstract on PubMed] [related articles]

Selected by | Thomas Mitchell-Olds
Evaluated 30 Mar 2005

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Thomas Mitchell-Olds
Max Planck Institute for Chemical Ecology, Germany
GENOMICS & GENETICS

New Finding

Regulatory polymorphisms in the Factor VII (F7) locus show evidence for positive selection in human populations. Allelic variants at this locus are associated with heart attack probability, and cell culture studies show differential expression levels among F7 alleles. Interspecific comparisons show an elevated evolutionary rate within transcription factor binding sites. Comparisons among human populations show higher population differentiation than putatively neutral SNPs elsewhere in the genome, suggesting a local selective sweep in Chinese populations. In summary, this paper shows the importance of regulatory variation for human phenotypic evolution and complex disease.

Evaluated 30 Mar 2005

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