Shaanxi Key Laboratory of Molecular Biology for Agriculture, College of Animal Science and Technology, Northwest A&F University, No. 22 Xinong Road, 712100, Yangling, Shaanxi, China.
Mol Biol Rep. 2011 Jan;38(1):539-44. doi: 10.1007/s11033-010-0138-7. Epub 2010 Mar 31.
Growth hormone-releasing hormone receptor (GHRHR) plays a critical role in growth hormone (GH) synthesis, release and regulation of pituitary somatotroph expansion in vertebrates. The objective of this study was to investigate variations in goat GHRHR gene and their associations with growth traits in 668 dairy goats. The results showed four novel single nucleotide polymorphisms (SNPs): NC_007302:g.5203C>T, 7307C>G, 9583G>A and 9668A>C. In detail, the novel SNP C>T in the 5203rd nucleotide identified a missense mutation: CCC (Pro)>TCC (Phe) at position 116aa of the goat GHRHR (423aa). Besides, 9583G>A and 9668A>C polymorphism were in complete linkage disequilibrium. The genetic diversity analysis revealed that the Guanzhong dairy goat possessed intermediate genetic diversity in P3 and P7 loci, and the Xinong Sannen dairy goat belonged to poor genetic diversity in P4 locus. Significant associations between the genotypes of P3 locus and body length, body height and chest circumference was observed in Guanzhong goat (P<0.05). However, in Xinong saanen population, significant statistical difference was only found in body height and body length (P<0.05). In P4 and P7 loci, no significant associations were detected between any variant sites and body length, body height and chest circumference, as well as for the milk traits (P>0.05). These results strongly suggested that the goat GHRHR gene is a candidate gene that influences growth traits in dairy goat.
生长激素释放激素受体（GHRHR）在脊椎动物生长激素（GH）的合成、释放和垂体生长激素细胞的扩张调节中发挥着关键作用。本研究旨在研究山羊 GHRHR 基因的变异及其与 668 只奶山羊生长性状的关系。结果表明，存在四个新的单核苷酸多态性（SNP）：NC_007302：g.5203C>T、7307C>G、9583G>A 和 9668A>C。详细来说，第 5203 个核苷酸的新型 SNP C>T 导致了山羊 GHRHR（423aa）第 116aa 位的错义突变：CCC（脯氨酸）>TCC（苯丙氨酸）。此外，9583G>A 和 9668A>C 多态性完全连锁不平衡。遗传多样性分析表明，关中奶山羊在 P3 和 P7 位点具有中等遗传多样性，而新宁萨能奶山羊在 P4 位点属于遗传多样性较差。在关中奶山羊中，P3 位点的基因型与体长、体高和胸围显著相关（P<0.05）。然而，在新宁萨能群体中，仅在体高和体长方面发现了显著的统计学差异（P<0.05）。在 P4 和 P7 位点，没有发现任何变异位点与体长、体高和胸围以及产奶性状之间存在显著关联（P>0.05）。这些结果强烈表明，山羊 GHRHR 基因是影响奶山羊生长性状的候选基因。
