Key Laboratory of Livestock and Poultry Multiomics, Ministry of Agriculture and Rural Affairs, College of Animal Science and Technology, Sichuan Agricultural University, Chengdu 611130, China.
Xinjiang Yili Prelecture Animal Husbandry Station, Yining 835000, China.
Genes (Basel). 2024 Mar 3;15(3):330. doi: 10.3390/genes15030330.
β-1,4-N-acetylgalactosamine transferase 2 () is a vital candidate gene that affects the growth traits in sheep. However, whether it has the same function in goats remains to be investigated further. This study selected 348 Nanjiang Yellow goats, screened all exons, and conserved non-coding regions of the gene for single-nucleotide polymorphisms (SNPs). Our results revealed the presence of a synonymous mutation, rs672215506, within the exon of the gene in the Nanjiang Yellow goat population. The mutation resulted in a decrease in the mRNA stability of the gene. The results of SNP detection of the conserved non-coding region of the gene showed five potential regulatory SNPs in the Nanjiang Yellow goat population. Except for rs66095343, the ~500 bp fragments of the other four SNPs (rs649127714, rs649573228, rs652899012, and rs639183528) significantly increased the luciferase activity both in goat skeletal muscle satellite cells (MuSCs) and 293T cells. The genetic diversity indexes indicated low or intermediate levels for all six SNPs analyzed, and the genotype frequencies were in Hardy-Weinberg equilibrium. Association analysis showed that rs660965343, rs649127714, and rs649573228 significantly correlate with growth traits in the later stage of growth and development of Nanjiang Yellow goats. The haplotype combinations of H2H3 and H2H2 had higher body weight and greater body size. Moreover, H2H2 haplotype combinations significantly correlated with the litter size of the Nanjiang Yellow goats. The results of our study demonstrate the potential role of the gene as a functional genetic marker in the breeding programs of Nanjiang Yellow goats.
β-1,4-N-乙酰氨基半乳糖转移酶 2 () 是影响绵羊生长性状的重要候选基因，但它在山羊中的作用是否相同还有待进一步研究。本研究选择了 348 只南江黄羊，对 基因的所有外显子和保守非编码区进行了单核苷酸多态性（SNP）筛查。结果在南江黄羊群体中发现了 基因外显子中的同义突变 rs672215506，该突变导致 基因的 mRNA 稳定性降低。对 基因保守非编码区 SNP 检测结果表明，在南江黄羊群体中存在 5 个潜在的调控 SNP。除 rs66095343 外，其余 4 个 SNP(rs649127714、rs649573228、rs652899012 和 rs639183528) 的 ~500 bp 片段在山羊骨骼肌卫星细胞 (MuSCs) 和 293T 细胞中均显著增加了荧光素酶活性。所有 6 个 SNP 的遗传多样性指数均表明处于低或中等水平，基因型频率处于 Hardy-Weinberg 平衡状态。关联分析表明，rs660965343、rs649127714 和 rs649573228 与南江黄羊生长发育后期的生长性状显著相关。H2H3 和 H2H2 的单倍型组合具有更高的体重和更大的体型。此外，H2H2 单倍型组合与南江黄羊的产仔数显著相关。本研究结果表明， 基因作为一个功能遗传标记，在南江黄羊的选育计划中具有潜在的作用。
