Liu Peiyao, Pan Yejun, Wang Xiangding, Cao Chunna, Li Ran, Pan Chuanying, Zhang Qingfeng, Lan Xianyong
Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, 712100, China.
Yangling Vocational & Technical College, Yangling, Shaanxi, 712100, China.
BMC Genomics. 2025 Sep 26;26(1):820. doi: 10.1186/s12864-025-12000-2.
Growth differentiation Factor 9 (GDF9) has been confirmed to be closely related to the reproductive capacity of sheep. This study systematically investigated the genetic variation of the GDF9 gene across 75 global sheep breeds (n = 2,409) and explored its association with gestation days in Australian White sheep (AUW, n = 120). Through whole-genome sequencing and SNP analysis, 49 SNPs (26 located in introns, 22 in exons, and 1 in the 3' UTR region) and 20 InDel loci were identified within GDF9 gene. Haplotype analysis revealed six major haplotypes strongly correlated with geographical population distribution. Association studies in Australian White sheep demonstrated a significant difference between three SNPs loci (g.42115010T > C, g.42115254T > C, and g.42114509T > C) and gestation days: primiparous ewes with the CC genotype at g.42,115,010 exhibited the shortest gestation days (146.42 ± 2.57 days, P = 0.030), while fourth-parity ewes with the AG genotype at g.42,114,509 showed an abnormally prolonged gestation (155.00 ± 12.81 days, P = 0.030). Key missense mutations (e.g., E241K, R87H) were predicted to alter protein 3D structure, suggesting functional impacts on reproductive regulation. Despite limited sample sizes in certain parity groups, suggests that GDF9 may serve a potential genetic marker for optimizing reproductive efficiency, offering molecular strategies to shorten primiparous gestation and uncovering its evolutionary role in sheep domestication.
生长分化因子9（GDF9）已被证实与绵羊的繁殖能力密切相关。本研究系统调查了全球75个绵羊品种（n = 2409）中GDF9基因的遗传变异，并探讨了其与澳大利亚白绵羊（AUW，n = 120）妊娠期的关联。通过全基因组测序和SNP分析，在GDF9基因内鉴定出49个SNP（26个位于内含子，22个位于外显子，1个位于3'UTR区域）和20个InDel位点。单倍型分析揭示了六种主要单倍型与地理种群分布密切相关。在澳大利亚白绵羊中的关联研究表明，三个SNP位点（g.42115010T＞C、g.42115254T＞C和g.42114509T＞C）与妊娠期存在显著差异：在g.42115010处具有CC基因型的初产母羊妊娠期最短（146.42±2.57天，P = 0.030），而在g.42114509处具有AG基因型的经产四次母羊妊娠期异常延长（155.00±12.81天，P = 0.030）。预测关键错义突变（如E241K、R87H）会改变蛋白质的三维结构，表明对生殖调控有功能影响。尽管某些胎次组的样本量有限，但表明GDF9可能是优化繁殖效率的潜在遗传标记，为缩短初产妊娠期提供分子策略，并揭示其在绵羊驯化中的进化作用。
