title: A cis-regulatory mutation of PDSS2 causes silky-feather in chickens.
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.
authors.affiliation: 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.
authors.forename: Chungang
authors.initials: C
authors.lastname: Feng
authors.affiliation: State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Gao
authors.affiliation: 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.
authors.forename: Ben
authors.initials: B
authors.lastname: Dorshorst
authors.affiliation: State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China; Jiangsu Institute of Poultry Science, Yangzhou, Jiangsu, China.
authors.forename: Chi
authors.initials: C
authors.lastname: Song
authors.affiliation: State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China; National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, China.
authors.forename: Xiaorong
authors.initials: X
authors.lastname: Gu
authors.affiliation: State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China; National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, China.
authors.forename: Qingyuan
authors.initials: Q
authors.lastname: Li
authors.affiliation: State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China; National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, China.
authors.forename: Jinxiu
authors.initials: J
authors.lastname: Li
authors.affiliation: State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China; National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, China.
authors.forename: Tongxin
authors.initials: T
authors.lastname: Liu
authors.affiliation: Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
authors.forename: Carl-Johan
authors.initials: CJ
authors.lastname: Rubin
authors.affiliation: State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China; National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, China.
authors.forename: Yiqiang
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China.
authors.forename: Yanqiang
authors.initials: Y
authors.lastname: Wang
authors.affiliation: State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China; National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Fei
authors.affiliation: Jiangsu Institute of Poultry Science, Yangzhou, Jiangsu, China.
authors.forename: Huifang
authors.initials: H
authors.lastname: Li
authors.affiliation: Jiangsu Institute of Poultry Science, Yangzhou, Jiangsu, China.
authors.forename: Kuanwei
authors.initials: K
authors.lastname: Chen
authors.affiliation: Institute of Animal Science, Guangdong Academy of Agricultural Sciences, Guangzhou, Guangdong, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Qu
authors.affiliation: Institute of Animal Science, Guangdong Academy of Agricultural Sciences, Guangzhou, Guangdong, China.
authors.forename: Dingming
authors.initials: D
authors.lastname: Shu
authors.affiliation: Prestage Department of Poultry Science, North Carolina State University, Raleigh, North Carolina, United States of America.
authors.forename: Chris
authors.initials: C
authors.lastname: Ashwell
authors.affiliation: Department of Animal Science, University of Minnesota, Saint Paul, Minnesota, United States of America.
authors.forename: Yang
authors.initials: Y
authors.lastname: Da
authors.affiliation: 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.
authors.forename: Leif
authors.initials: L
authors.lastname: Andersson
authors.affiliation: State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing, China; National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, China.
authors.forename: Xiaoxiang
authors.initials: X
authors.lastname: Hu
authors.affiliation: 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.
authors.forename: Ning
authors.initials: N
authors.lastname: Li
mesh_terms: D019883:Alkyl and Aryl Transferases / Q000235:genetics*; D000818:Animals; D001947:Breeding; D002645:Chickens / Q000235:genetics*; D005241:Feathers / Q000254:growth & development* / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D008040:Genetic Linkage; D009154:Mutation; D010641:Phenotype; D011401:Promoter Regions, Genetic; D012045:Regulatory Sequences, Nucleic Acid
chemical_list: D019883:Alkyl and Aryl Transferases; C039821:decaprenyl pyrophosphate synthetase