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

PLoS Genet. 2014 Aug 28;10(8):e1004576. doi: 10.1371/journal.pgen.1004576. eCollection 2014 Aug.

Authors

Chungang Feng¹, Yu Gao², Ben Dorshorst³, Chi Song⁴, Xiaorong Gu⁵, Qingyuan Li⁵, Jinxiu Li⁵, Tongxin Liu⁵, Carl-Johan Rubin⁶, Yiqiang Zhao⁵, Yanqiang Wang², Jing Fei⁵, Huifang Li⁷, Kuanwei Chen⁷, Hao Qu⁸, Dingming Shu⁸, Chris Ashwell⁹, Yang Da¹⁰, Leif Andersson¹¹, Xiaoxiang Hu⁵, Ning Li¹²

Affiliations

¹ State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China; National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, China; College of Animal Science and Technology, China Agricultural University, Beijing, China.
² State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China.
³ Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden; Department of Animal and Poultry Sciences, Virginia Tech, Blacksburg, Virginia, United States of America.
⁴ State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China; Jiangsu Institute of Poultry Science, Yangzhou, Jiangsu, China.
⁵ State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China; National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, China.
⁶ Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
⁷ Jiangsu Institute of Poultry Science, Yangzhou, Jiangsu, China.
⁸ Institute of Animal Science, Guangdong Academy of Agricultural Sciences, Guangzhou, Guangdong, China.
⁹ Prestage Department of Poultry Science, North Carolina State University, Raleigh, North Carolina, United States of America.
¹⁰ Department of Animal Science, University of Minnesota, Saint Paul, Minnesota, United States of America.
¹¹ Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden; Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
¹² State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China; National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, China; College of Animal Science and Technology, Yunnan Agricultural University, Kunming, Yunnan, China.

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alkyl and Aryl Transferases / genetics*
Animals
Breeding
Chickens / genetics*
Feathers / growth & development*
Feathers / metabolism
Gene Expression Regulation, Developmental
Genetic Linkage
Mutation
Phenotype
Promoter Regions, Genetic
Regulatory Sequences, Nucleic Acid*

Substances

Alkyl and Aryl Transferases
decaprenyl pyrophosphate synthetase

Grants and funding

This work was supported by grants from the National High Technology Research and Development Program of China (2011AA100301), National Key Technologies R&D Program (2011BAD28B03), Key Technology Research and Development Program of Guangdong Emerging Strategic Industries (2012A020800005) and 948 Program of the Ministry of Agriculture of China (2012-G1). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.