牛黑色素皮质素 3 受体假基因的多态性。

The polymorphisms of bovine melanocortin-3 receptor pseudogene.

机构信息

College of Animal Science and Technology, Northwest A&F University, Shaanxi Key Laboratory of Molecular Biology for Agriculture Yangling, Shaanxi 712100, China.

出版信息

Res Vet Sci. 2011 Apr;90(2):241-4. doi: 10.1016/j.rvsc.2010.06.007. Epub 2010 Jul 2.

DOI:10.1016/j.rvsc.2010.06.007

PMID:20598331

Abstract

Mammalian melanocortin-3 receptor (MC3R) plays an important role in the central control of energy homeostasis, and several functional polymorphisms of mc3r have been detected. Interestingly, the bovine mc3r was a pseudogene, and its polymorphisms and function remain to be investigated. Single-strand conformation polymorphism (SSCP) showed 5, 2 and 3 genotypes in fragment F1, F2 and F3 of mc3r in seven cattle breeds, respectively. All genotypes revealed novel sequences. Three SNPs 657G>T, 756C>T, 822T>C were detected in fragment F1, five SNPs 1091T>C, 1133T>C, 1144C>T, 1259T>C and 1319G>A were detected in fragment F2, and two SNPs 1687G>A, 1860C>T were detected in F3. The SNPs in fragment F1 and F2 were located at exon 2. The five SNPs in fragment F2 demonstrated a tight linkage disequilibrium status. Variation detected here might have an impact on the function of bovine mc3r pseudogene.

摘要

哺乳动物黑皮质素-3 受体 (MC3R) 在能量平衡的中枢控制中发挥着重要作用，已经检测到几个 MC3R 的功能多态性。有趣的是，牛的 MC3R 是一个假基因，其多态性和功能仍有待研究。单链构象多态性 (SSCP) 显示在七个牛品种的 mc3r 的片段 F1、F2 和 F3 中，分别有 5、2 和 3 种基因型。所有基因型都揭示了新的序列。在片段 F1 中检测到三个 SNP657G>T、756C>T 和 822T>C，在片段 F2 中检测到五个 SNP1091T>C、1133T>C、1144C>T、1259T>C 和 1319G>A，在 F3 中检测到两个 SNP1687G>A 和 1860C>T。片段 F1 和 F2 中的 SNP 位于外显子 2。片段 F2 中的五个 SNP 表现出紧密的连锁不平衡状态。这里检测到的变异可能对牛 MC3R 假基因的功能有影响。