title: A 6-bp deletion in exon 8 and two mutations in introns of TYRP1 are associated with blond coat color in Liangshan pigs.
abstract: Melanocortin receptor 1 (MC1R), Agouti signaling protein (ASIP), and Tyrosinase-related protein 1 (TYRP1) are reported critical genes that regulate pheomelanin and eumelanin synthesis in mammals. Liangshan pig is a special Chinese indigenous pig breed with two completely different coat colors, solid black and blond. In this study, we detected polymorphisms of the above three genes and assessed the relationships between the variations and coat color phenotypes in Liangshan pigs. The findings revealed that the blond phenotype of Liangshan pig was related to dominant mutations in TYRP1, but not related to mutations in MC1R or ASIP. We found three closely linked mutations in TYRP1, g.8406G>A in intron 4, g.11100A>G in intron 5, and g.17599_17604del in exon 8, that were completely associated with blond coat color in Liangshan pigs. Further analysis revealed that a 6-bp deletion mutation resulted in deletion of Met and Gly residues at positions 495 and 496 in TYRP1 protein, and altered the structure of transmembrane domain of TYRP1. Together, our findings indicated that these three mutations in TYRP1 cause the blond phenotype in Liangshan pigs.
authors.affiliation: College of Animal Science and Technology, Sichuan Agricultural University, Chengdu 611130, China.
authors.forename: Xiaoqian
authors.initials: X
authors.lastname: Wu
authors.affiliation: Department of Animal Science, Xichang College, Xichang 615000, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: College of Animal Science and Technology, Sichuan Agricultural University, Chengdu 611130, China.
authors.forename: Linyuan
authors.initials: L
authors.lastname: Shen
authors.affiliation: College of Animal Science and Technology, Sichuan Agricultural University, Chengdu 611130, China.
authors.forename: Jingjing
authors.initials: J
authors.lastname: Du
authors.affiliation: College of Animal Science and Technology, Sichuan Agricultural University, Chengdu 611130, China.
authors.forename: Jia
authors.initials: J
authors.lastname: Luo
authors.affiliation: College of Animal Science and Technology, Sichuan Agricultural University, Chengdu 611130, China.
authors.forename: Chendong
authors.initials: C
authors.lastname: Liu
authors.affiliation: College of Animal Science and Technology, Sichuan Agricultural University, Chengdu 611130, China.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Pu
authors.affiliation: Mabian Gold Liangshan Agricultural Development Co., Ltd, Mabian 614600, China.
authors.forename: Runlin
authors.initials: R
authors.lastname: Yang
authors.affiliation: College of Animal Science and Technology, Sichuan Agricultural University, Chengdu 611130, China.
authors.forename: Xuewei
authors.initials: X
authors.lastname: Li
authors.affiliation: College of Animal Science and Technology, Sichuan Agricultural University, Chengdu 611130, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Bai
authors.affiliation: College of Animal Science and Technology, Sichuan Agricultural University, Chengdu 611130, China.
authors.forename: Guoqing
authors.initials: G
authors.lastname: Tang
authors.affiliation: College of Animal Science and Technology, Sichuan Agricultural University, Chengdu 611130, China. Electronic address: zhangsh1919@163.com.
authors.forename: Shunhua
authors.initials: S
authors.lastname: Zhang
authors.affiliation: College of Animal Science and Technology, Sichuan Agricultural University, Chengdu 611130, China. Electronic address: zhuli7508@163.com.
authors.forename: Li
authors.initials: L
authors.lastname: Zhu
mesh_terms: D054366:Agouti Signaling Protein / Q000235:genetics; D000818:Animals; D001483:Base Sequence; D056726:Genetic Association Studies / Q000662:veterinary*; D006200:Hair Color; D007438:Introns; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics; D017384:Sequence Deletion; D034421:Sus scrofa / Q000145:classification / Q000235:genetics* / Q000502:physiology; D013552:Swine
chemical_list: D054366:Agouti Signaling Protein; D008562:Membrane Glycoproteins; D044102:Receptor, Melanocortin, Type 1
keywords: ASIP; Coat color; Liangshan pig; MC1R; TYRP1