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

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, Kuanwei Chen, Hao Qu, Dingming Shu, Chris Ashwell, Yang Da, Leif Andersson, Xiaoxiang HuNing Li

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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.

Original languageEnglish (US)
Article numbere1004576
JournalPLoS genetics
Issue number8
StatePublished - Aug 28 2014

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    Feng, C., Gao, Y., Dorshorst, B., Song, C., Gu, X., Li, Q., Li, J., Liu, T., Rubin, C. J., Zhao, Y., Wang, Y., Fei, J., Li, H., Chen, K., Qu, H., Shu, D., Ashwell, C., Da, Y., Andersson, L., ... Li, N. (2014). A cis-Regulatory Mutation of PDSS2 Causes Silky-Feather in Chickens. PLoS genetics, 10(8), [e1004576]. https://doi.org/10.1371/journal.pgen.1004576