A cis-Regulatory Mutation of PDSS2 Causes Silky-Feather in Chickens

作者：Chungang Feng, Yu Gao, Ben Dorshorst, Chi Song, Xiaorong Gu, Qingyuan Li, Jinxiu Li, Tongxin Liu, Carl‐Johan Rubin, Yiqiang Zhao, Yanqiang Wang, Jing Fei, Huifang Li, Kuan‐Wei Chen, Hao Qu, Dingming Shu, Christopher M. Ashwell, Yang Da, Leif Andersson, Xiaoxiang Hu, Ning Li · 发表于：PLoS Genetics · 年份：2014 · DOI：10.1371/journal.pgen.1004576 · 被引用次数：43 · 研究领域：RNA Research and Splicing、RNA and protein synthesis mechanisms、RNA regulation and disease

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.