Science. 2009 Feb 6;323(5915):714; author reply 714.

Comment on "Human-specific gain of function in a developmental enhancer".

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Université de Lyon, Université Lyon 1, CNRS, UMR5558, Laboratoire de Biométrie et Biologie Evolutive, F-69622, Villeurbanne, France. duret@biomserv.univ-lyon1.fr

Abstract

Prabhakar et al. (Reports, 5 September 2008, p. 1346) argued that the conserved noncoding sequence HACNS1 has undergone positive selection and contributed to human adaptation. However, the pattern of substitution in HACNS1 is more consistent with the neutral process of biased gene conversion (BGC). The reported human-specific gain of function is likely due to the accumulation of deleterious mutations driven by BGC, not positive selection.

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Science. 2008 Sep 5;321(5894):1346-50.

PMID:: 19197042; [PubMed - indexed for MEDLINE]

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Loss-of-function mutation in a repressor module of human-specifically activated enhancer HACNS1. [Mol Biol Evol. 2011]
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Cited by 5 PubMed Central articles

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