Comment on "Human-Specific Gain of Function in a Developmental Enhancer"

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.

[1]  L. Duret,et al.  GC-biased gene conversion promotes the fixation of deleterious amino acid changes in primates. , 2009, Trends in genetics : TIG.

[2]  J. Vivanco,et al.  ‡ To whom correspondence should be addressed: , 2022 .

[3]  A. Visel,et al.  Response to Comment on "Human-Specific Gain of Function in a Developmental Enhancer" , 2009, Science.

[4]  Laurent Duret,et al.  The Impact of Recombination on Nucleotide Substitutions in the Human Genome , 2008, PLoS genetics.

[5]  D. Haussler,et al.  Biased clustered substitutions in the human genome: the footprints of male-driven biased gene conversion. , 2007, Genome research.

[6]  L. Duret,et al.  Adaptation or biased gene conversion? Extending the null hypothesis of molecular evolution. , 2007, Trends in genetics : TIG.

[7]  S. Pääbo,et al.  Accelerated Evolution of Conserved Noncoding Sequences in Humans , 2006, Science.

[8]  D. Haussler,et al.  An RNA gene expressed during cortical development evolved rapidly in humans , 2006, Nature.

[9]  P. Donnelly,et al.  A Fine-Scale Map of Recombination Rates and Hotspots Across the Human Genome , 2005, Science.

[10]  Hans Ellegren,et al.  Male-driven biased gene conversion governs the evolution of base composition in human alu repeats. , 2005, Molecular biology and evolution.

[11]  P. Donnelly,et al.  Comparison of Fine-Scale Recombination Rates in Humans and Chimpanzees , 2005, Science.

[12]  L. Duret,et al.  Recombination drives the evolution of GC-content in the human genome. , 2004, Molecular biology and evolution.

[13]  G. Marais,et al.  Biased gene conversion: implications for genome and sex evolution. , 2003, Trends in genetics : TIG.

[14]  J. Montoya-Burgos,et al.  Recombination explains isochores in mammalian genomes. , 2003, Trends in genetics : TIG.

[15]  D. Gudbjartsson,et al.  A high-resolution recombination map of the human genome , 2002, Nature Genetics.