Zhang Haoyuan, Yang Pu, Liu Chengli, Ma Yuehui, Han Yanguo, Zeng Yan, Huang Yongfu, Zhao Yongju, Zhao Zhongquan, He Xiaohong, E Guangxin
College of Animal Science and Technology, Southwest University, Chongqing 400715, China.
Institute of Animal Husbandry and Veterinary Medicine, Chinese Academy of Agricultural Sciences, Beijing 100097, China.
Animals (Basel). 2023 Oct 10;13(20):3166. doi: 10.3390/ani13203166.
Horns are an important breeding trait for sheep. However, no widely recognized viewpoint on the regulatory genes and mechanisms of horns is available, and the genetic basis of the four-horn phenotype (FHP) is unclear. This work conducted a genome-wide association study with 100 sheep genomes from multiple breeds to investigate the genetic basis of the FHP. The results revealed three significant associations (corrected as < 1.64 × 10) of the InDels (CHR2: g.133,742,709delA, g.133,743,215insC, and g.133,743,940delT) for FHP in the intergenic sequence (IGS) between the and the of CHR2. Moreover, 14 significant associations (corrected as < 1.42 × 10) of SNPs with the FHP phenotype were identified in CHR2 and CHR16, including five (e.g., CHR16: g.40,351,378G > A and g.40,352,577G > A) located in the intron of the gene, eight (e.g., CHR2: g.133,727,513C > T and g.133,732,145T > G) in the IGS between and , and only one (CHR2: g.133,930,761A > G) in the IGS between and . Obvious divergence was also observed in genotype patterns between the FHP and others (two horns and hornless) in the and gene regions. An extremely significant linkage also occurred between Loci I and Loci II within 100 individuals (LD = -156.02186, < 0.00001). In summary, our study indicated that the genomic sequences from CHR2 and CHR16 contributed to the FHP in sheep, specifically the key candidate genes and . These results improved our understanding of the Mendelian genetic basis of the FHP in sheep.
角是绵羊的一个重要繁殖性状。然而，目前对于角的调控基因和机制尚无广泛认可的观点，四羊角型（FHP）的遗传基础也不清楚。本研究对来自多个品种的100只绵羊基因组进行了全基因组关联研究，以探究FHP的遗传基础。结果显示，在CHR2的 和 之间的基因间序列（IGS）中，InDels（CHR2: g.133,742,709delA、g.133,743,215insC和g.133,743,940delT）与FHP存在三个显著关联（校正后 < 1.64 × 10）。此外，在CHR2和CHR16中鉴定出14个与FHP表型显著相关的SNPs（校正后 < 1.42 × 10），其中5个（如CHR16: g.40,351,378G > A和g.40,352,577G > A）位于 基因的内含子中，8个（如CHR2: g.133,727,513C > T和g.133,732,145T > G）在 和 之间的IGS中，仅1个（CHR2: g.133,930,761A > G）在 和 之间的IGS中。在FHP与其他类型（双角和无角）之间的 和 基因区域的基因型模式也观察到明显差异。在100个个体中，位点I和位点II之间还出现了极显著的连锁（LD = -156.02186， < 0.00001）。总之，我们的研究表明，CHR2和CHR16的基因组序列对角型性状有贡献，特别是关键候选基因 和 。这些结果增进了我们对绵羊FHP孟德尔遗传基础的理解。
