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 Hu; Ning Li

doi:10.1371/journal.pgen.1004576

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

Animal Science

Research output: Contribution to journal › Article › peer-review

27 Scopus citations

Abstract

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 language	English (US)
Article number	e1004576
Journal	PLoS genetics
Volume	10
Issue number	8
DOIs	https://doi.org/10.1371/journal.pgen.1004576
State	Published - Aug 28 2014

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© 2014 Feng et al.

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abstract = "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.",

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AU - Feng, Chungang

AU - Gao, Yu

AU - Dorshorst, Ben

AU - Song, Chi

AU - Gu, Xiaorong

AU - Li, Qingyuan

AU - Li, Jinxiu

AU - Liu, Tongxin

AU - Rubin, Carl Johan

AU - Zhao, Yiqiang

AU - Wang, Yanqiang

AU - Fei, Jing

AU - Li, Huifang

AU - Chen, Kuanwei

AU - Qu, Hao

AU - Shu, Dingming

AU - Ashwell, Chris

AU - Da, Yang

AU - Andersson, Leif

AU - Hu, Xiaoxiang

AU - Li, Ning

PY - 2014/8/28

Y1 - 2014/8/28

N2 - 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.

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

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