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

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...

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Detalles Bibliográficos
Autores principales: Feng, Chungang, Gao, Yu, Dorshorst, Ben, Song, Chi, Gu, Xiaorong, Li, Qingyuan, Li, Jinxiu, Liu, Tongxin, Rubin, Carl-Johan, Zhao, Yiqiang, Wang, Yanqiang, Fei, Jing, Li, Huifang, Chen, Kuanwei, Qu, Hao, Shu, Dingming, Ashwell, Chris, Da, Yang, Andersson, Leif, Hu, Xiaoxiang, Li, Ning
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4148213/
https://www.ncbi.nlm.nih.gov/pubmed/25166907
http://dx.doi.org/10.1371/journal.pgen.1004576
Descripción
Sumario: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.