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A 6-bp deletion in exon 8 and two mutations in introns of TYRP1 are associated with blond coat color in Liangshan pigs

Authors :
Lin Bai
Shunhua Zhang
Yang Runlin
Yi Zhang
Xuewei Li
Chendong Liu
Linyuan Shen
Qiang Pu
Li Zhu
Guoqing Tang
Xiaoqian Wu
Jia Luo
Jingjing Du
Source :
Gene. 578(1)
Publication Year :
2015

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.

Details

ISSN :
18790038
Volume :
578
Issue :
1
Database :
OpenAIRE
Journal :
Gene
Accession number :
edsair.doi.dedup.....ae5d0ebe11c086acb2e1ad774e93e27a