Open AccessResponse to Comment on "Human-Specific Gain of Function in a Developmental Enhancer"
Author(s) -
Shyam Prabhakar,
Axel Visel,
Jennifer A. Akiyama,
Malak Shoukry,
Keith D. Lewis,
Amy Holt,
Ingrid Plajzer-Frick,
Harris Morrison,
David R. FitzPatrick,
Veena Afzal,
L Pennacchio,
Edward M. Rubin,
James P. Noonan
Publication year - 2009
Publication title -
science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 12.556
H-Index - 1186
eISSN - 1095-9203
pISSN - 0036-8075
DOI - 10.1126/science.1166571
Subject(s) - enhancer , negative selection , biology , positive selection , selection (genetic algorithm) , genetics , sequence (biology) , function (biology) , gain of function , gene , divergence (linguistics) , recombination , computational biology , human genome , evolutionary biology , phenotype , genome , gene expression , computer science , linguistics , philosophy , artificial intelligence
Duret and Galtier argue that human-specific sequence divergence and gain of function in theHACNS1 enhancer result from deleterious biased gene conversion (BGC) with no contribution from positive selection. We reinforce our previous conclusion by analyzing hypothesized BGC events genomewide and assessing the effect of recombination rates on human-accelerated conserved noncoding sequence ascertainment. We also provide evidence that AT → GC substitution bias can coexist with positive selection.