title: SNP and haplotype analysis of paired box 3 (PAX3) gene provide evidence for association with growth traits in Chinese cattle.
abstract: Paired box 3 (PAX3) belongs to the PAX superfamily of transcription factors and plays essential roles in the embryogenesis and postnatal formation of limb musculature through affecting the survival of muscle progenitor cells. By genetic mapping, PAX3 gene is assigned in the interval of quantitative trait loci for body weight on bovine BTA2. The objectives of this study were to detect polymorphisms of PAX3 gene in 1,241 cattle from five breeds and to investigate their effects on growth traits. Initially, three novel single nucleotide polymorphisms (SNPs) were identified by DNA pool sequencing and aCRS-RFLP methods (AC_000159: g.T-580G, g.A4617C and g.79018Ins/del G), which were located at 5'-UTR, exon 4 and intron 6, respectively. A total of eight haplotypes were constructed and the frequency of the three main haplotypes H1 (TAG), H2 (GCG) and H3 (GAG) accounted for over 81.7 % of the total individuals. Statistical analysis revealed that the three SNPs were associated with body height and body length of Nanyang and Chinese Caoyuan cattle at the age of 6 and/or 12 months old (P < 0.05), and consistently significant effects were also found in the haplotype combination analysis on these traits (P < 0.05). This study presented a complete scan of variations within bovine PAX3 gene, which could provide evidence for improving the economic traits of cattle by using these variations as potentially genetic markers in early marker-assisted selection programs.
authors.affiliation: College of Animal Science and Technology, Northwest A & F University, Shaanxi Key Laboratory of Molecular Biology for Agriculture, No. 22 Xinong Road, Yangling, 712100, Shaanxi, China, xuyao554099364@163.com.
authors.forename: Yao
authors.initials: Y
authors.lastname: Xu
authors.forename: Hanfang
authors.initials: H
authors.lastname: Cai
authors.forename: Yang
authors.initials: Y
authors.lastname: Zhou
authors.forename: Tao
authors.initials: T
authors.lastname: Shi
authors.forename: Xianyong
authors.initials: X
authors.lastname: Lan
authors.forename: Chunlei
authors.initials: C
authors.lastname: Zhang
authors.forename: Chuzhao
authors.initials: C
authors.lastname: Lei
authors.forename: Yutang
authors.initials: Y
authors.lastname: Jia
authors.forename: Hong
authors.initials: H
authors.lastname: Chen
mesh_terms: D000818:Animals; D001835:Body Weight; D001947:Breeding; D002417:Cattle; D002874:Chromosome Mapping; D005091:Exons; D005260:Female; D015870:Gene Expression; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D007438:Introns; D008297:Male; D008460:Meat; D051761:Paired Box Transcription Factors / Q000235:genetics*; D019683:Penetrance; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D019655:Quantitative Trait, Heritable
chemical_list: D005819:Genetic Markers; D051761:Paired Box Transcription Factors