title: Identification of bovine NPC1 gene cSNPs and their effects on body size traits of Qinchuan cattle.
abstract: NPC1 gene is an important gene closely related to the Niemann-Pick type C (NPC). Mutations in the NPC1 gene tend to cause Niemann-Pick type C, a lysosomal storage disorder. Previous studies have shown that NPC1 protein plays an important role in subcellular lipid transport, homeostasis, platelet function and formation, which are basic metabolic activities in the process of development. In this study, to explore the association between the NPC1 gene variation and body size traits in Qinchuan cattle, we detected four novel coding single nucleotide polymorphisms (cSNPs) in the bovine NPC1 gene, including one missense mutation (SNP1) and three synonymous mutations (SNP2, SNP3 and SNP4). Population genetic analyses of 518 individuals and association correlations between cSNPs and bovine body size traits were conducted in this research. A missense mutation at SNP1 locus was found to be significantly related to the heart girth, hip width and body weight (P<0.01 or P<0.05, 3.5-year-old). Two synonymous mutations at SNP2 and SNP3 loci also showed significant effects on hip width (P<0.05, 3.5-year-old). One synonymous mutation at SNP4 locus showed significant effect on body weight (P<0.05, 2.0-year-old). Combined haplotypes H2H6 and H6H6 showed significant effects on body size traits such as heart girth, hip width, and body weight (3.5-year-old, P<0.01 or P<0.05). This study provides evidence that the NPC1 gene might be involved in the regulation of bovine growth and body development, and may be considered as a candidate gene for marker assisted selection (MAS) in beef cattle breeding industry.
authors.affiliation: College of Animal Science and Technology, Northwest A & F University, Shaanxi Key Laboratory of Molecular Biology for Agriculture, Yangling, Shaanxi 712100, China.
authors.forename: Yonglong
authors.initials: Y
authors.lastname: Dang
authors.affiliation: College of Animal Science and Technology, Northwest A & F University, Shaanxi Key Laboratory of Molecular Biology for Agriculture, Yangling, Shaanxi 712100, China.
authors.forename: Mingxun
authors.initials: M
authors.lastname: Li
authors.affiliation: College of Animal Science and Technology, Northwest A & F University, Shaanxi Key Laboratory of Molecular Biology for Agriculture, Yangling, Shaanxi 712100, China.
authors.forename: Mingjuan
authors.initials: M
authors.lastname: Yang
authors.affiliation: College of Animal Science and Technology, Northwest A & F University, Shaanxi Key Laboratory of Molecular Biology for Agriculture, Yangling, Shaanxi 712100, China.
authors.forename: Xiukai
authors.initials: X
authors.lastname: Cao
authors.affiliation: College of Animal Science and Technology, Northwest A & F University, Shaanxi Key Laboratory of Molecular Biology for Agriculture, Yangling, Shaanxi 712100, China.
authors.forename: Xianyong
authors.initials: X
authors.lastname: Lan
authors.affiliation: College of Animal Science and Technology, Northwest A & F University, Shaanxi Key Laboratory of Molecular Biology for Agriculture, Yangling, Shaanxi 712100, China.
authors.forename: Chuzhao
authors.initials: C
authors.lastname: Lei
authors.affiliation: Institute of Cellular and Molecular Biology, Jiangsu Normal University, Xuzhou, Jiangsu 221116, China.
authors.forename: Chunlei
authors.initials: C
authors.lastname: Zhang
authors.affiliation: College of Animal Science and Technology, Northwest A & F University, Shaanxi Key Laboratory of Molecular Biology for Agriculture, Yangling, Shaanxi 712100, China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Lin
authors.affiliation: College of Animal Science and Technology, Northwest A & F University, Shaanxi Key Laboratory of Molecular Biology for Agriculture, Yangling, Shaanxi 712100, China. Electronic address: chenhong1212@263.net.
authors.forename: Hong
authors.initials: H
authors.lastname: Chen
mesh_terms: D000818:Animals; D001483:Base Sequence; D049628:Body Size / Q000235:genetics*; D002417:Cattle / Q000235:genetics* / Q000254:growth & development; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D048788:Growth and Development / Q000235:genetics; D006239:Haplotypes; D015810:Linkage Disequilibrium; D008562:Membrane Glycoproteins / Q000235:genetics*; D020125:Mutation, Missense; D016366:Open Reading Frames; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D008562:Membrane Glycoproteins
keywords: Body size traits; Coding single nucleotide polymorphisms (cSNPs); Combined haplotypes; Missense mutation; NPC1 gene