Departamento de Ciencias Exatas, Faculdade de Ciencias Agrarias e Veterinarias (FCAV), Universidade Estadual Paulista Julio de Mesquita Filho (UNESP), Jaboticabal, Sao Paulo, Brazil.
Department of Animal and Dairy Science, University of Georgia, Athens, Georgia, United States of America.
PLoS One. 2018 Aug 30;13(8):e0202978. doi: 10.1371/journal.pone.0202978. eCollection 2018.
The causal mutation for polledness in Nelore (Bos taurus indicus) breed seems to have appeared first in Brazil in 1957. The expression of the polled trait is known to be ruled by a few groups of alleles in taurine breeds; however, the genetic basis of this trait in indicine cattle is still unclear. The aim of this study was to identify genomic regions associated with the hornless trait in a commercial Nelore population. A total of 107,294 animals had phenotypes recorded and 2,238 were genotyped/imputed for 777k SNP. The weighted single-step approach for genome-wide association study (WssGWAS) was used to estimate the SNP effects and variances accounted for by 1 Mb sliding SNP windows. A centromeric region of chromosome 1 with 3.11 Mb size (BTA1: 878,631-3,987,104 bp) was found to be associated with hornless in the studied population. A total of 28 protein-coding genes are mapped in this region, including the taurine Polled locus and the IFNAR1, IFNAR2, IFNGR2, KRTAP11-1, MIS18A, OLIG1, OLIG2, and SOD1 genes, which expression can be related to the horn formation as described in literature. The functional enrichment analysis by DAVID tool revealed cytokine-cytokine receptor interaction, JAK-STAT signaling, natural killer cell mediated cytotoxicity, and osteoclast differentiation pathways as significant (P < 0.05). In addition, a runs of homozygosity (ROH) analysis identified a ROH island in polled animals with 2.47 Mb inside the region identified by WssGWAS. Polledness in Nelore cattle is associated with one region in the genome with 3.1 Mb size in chromosome 1. Several genes are harbored in this region, and they may act together in the determination of the polled/horned phenotype. Fine mapping the locus responsible for polled trait in Nelore breed and the identification of the molecular mechanisms regulating the horn growth deserve further investigation.
在 1957 年,巴西首次出现了无角性状的因果突变,这种突变似乎是导致尼洛里牛(Bos taurus indicus)无角的原因。众所周知,在瘤牛品种中,无角性状是由少数等位基因群控制的;然而,该性状在印度牛品种中的遗传基础仍不清楚。本研究旨在鉴定尼洛里牛商业群体中与无角性状相关的基因组区域。共有 107294 头动物的表型记录,其中 2238 头动物的表型记录和 777k SNP 的基因型/推断结果被记录。使用全基因组关联研究的加权单步方法(WssGWAS)来估计 SNP 效应和 SNP 窗口滑动 1Mb 时的方差。在研究群体中,发现 1 号染色体着丝粒区域的大小为 3.11Mb(BTA1:878631-3987104bp)与无角性状相关。该区域共映射了 28 个蛋白质编码基因,包括瘤牛 Polled 基因座以及 IFNAR1、IFNAR2、IFNGR2、KRTAP11-1、MIS18A、OLIG1、OLIG2 和 SOD1 基因,文献中描述了这些基因的表达与角的形成有关。DAVID 工具的功能富集分析显示细胞因子-细胞因子受体相互作用、JAK-STAT 信号转导、自然杀伤细胞介导的细胞毒性和破骨细胞分化途径具有显著意义(P<0.05)。此外,杂合性缺失(ROH)分析发现,在 WssGWAS 确定的区域内,无角牛存在一个 2.47Mb 的 ROH 岛。尼洛里牛的无角性状与 1 号染色体上 3.1Mb 大小的基因组区域有关。该区域内存在多个基因,它们可能共同作用于无角/有角表型的决定。进一步精细定位尼洛里牛无角性状的基因座,并确定调控角生长的分子机制,值得进一步研究。