%0 Journal Article
%T A cis-Regulatory Mutation of PDSS2 Causes Silky-Feather in Chickens
%A Chungang Feng
%A Yu Gao
%A Ben Dorshorst
%A Chi Song
%A Xiaorong Gu
%A Qingyuan Li
%A Jinxiu Li
%A Tongxin Liu
%A Carl-Johan Rubin
%A Yiqiang Zhao
%A Yanqiang Wang
%A Jing Fei
%A Huifang Li
%A Kuanwei Chen
%A Hao Qu
%A Dingming Shu
%A Chris Ashwell
%A Yang Da
%A Leif Andersson
%A Xiaoxiang Hu
%A Ning Li
%J PLOS Genetics
%D 2014
%I Public Library of Science (PLoS)
%R doi/10.1371/journal.pgen.1004576
%X Silky-feather has been selected and fixed in some breeds due to its unique appearance. This phenotype is caused by a single recessive gene (hookless, h). Here we map the silky-feather locus to chromosome 3 by linkage analysis and subsequently fine-map it to an 18.9 kb interval using the identical by descent (IBD) method. Further analysis reveals that a C to G transversion located upstream of the prenyl (decaprenyl) diphosphate synthase, subunit 2 (PDSS2) gene is causing silky-feather. All silky-feather birds are homozygous for the G allele. The silky-feather mutation significantly decreases the expression of PDSS2 during feather development in vivo. Consistent with the regulatory effect, the C to G transversion is shown to remarkably reduce PDSS2 promoter activity in vitro. We report a new example of feather structure variation associated with a spontaneous mutation and provide new insight into the PDSS2 function.
%U http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1004576