Feng, ChungangGao, YuDorshorst, Benjamin J.Song, ChiGu, XiaorongLi, QingyuanLi, JinxiuLiu, TongxinRubin, Carl-JohanZhao, YiqiangWang, YanqiangFei, JingLi, HuifangChen, KuanweiQu, HaoShu, DingmingAshwell, Christopher M.Da, YangAndersson, LeifHu, XiaoxiangLi, Ning2019-10-222019-10-222014-081553-7404e1004576http://hdl.handle.net/10919/95025Silky-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.application/pdfenCreative Commons Attribution 4.0 InternationalArticle - Refereedhttps://doi.org/10.1371/journal.pgen.100457610825166907