A cis-regulatory mutation of PDSS2 causes silky-feather in chickens.

Feng C, Gao Y, Dorshorst B, Song C, Gu X, Li Q, Li J, Liu T, Rubin CJ, Zhao Y, Wang Y, Fei J, Li H, Chen K, Qu H, Shu D, Ashwell C, Da Y, Andersson L, Hu X, Li N

PLoS Genet 10 (8) e1004576 [2014-08-00; online 2014-08-28]

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.

Affiliated researcher

PubMed 25166907

DOI 10.1371/journal.pgen.1004576

Crossref 10.1371/journal.pgen.1004576

pii: PGENETICS-D-13-02930
pmc: PMC4148213