Key Laboratory of Farm Animal Genetic Resources and Germplasm Innovation of Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing, 100193, People's Republic of China.
Mol Biol Rep. 2013 Feb;40(2):1893-904. doi: 10.1007/s11033-012-2245-0. Epub 2012 Oct 19.
Thyroid stimulating hormone beta chain (TSHB) is mainly expressed in pituitary and its expression is closely related to photoperiodic control of seasonal reproduction in animals. In the present study, ten primer pairs have been used to clone the DNA sequence and to detect genetic mutations of goat TSHB gene. Two DNA fragments of goat TSHB gene were obtained, which were 2,614 and 1,031 bp in length, respectively. They comprised about 2.5 kb 5' regulatory region, all of the three exons and two introns. Goat TSHB gene has a coding region of 417 bp, encoding 138 amino acids which was predicted to be a secretory protein with a signal peptide of 16 amino acids. The sequence of TSHB gene is highly conserved among mammals. In addition, five mutations (C53A, 3 bp Indel at the 287-289 locus, 34 bp Indel at the 584-617 locus, A1819C and E2_72TA) were found in goat TSHB gene and they were shown to be in strong linkage disequilibrium. Interestingly, the genotype distributions for both single locus and haplotype have shown to be significant different between seasonal and nonseasonal goat breeds. And haplotype H2 and diplotype H2/H4 may be related to year-round estrus. We preliminarily presumed that the five closely linked mutations of goat TSHB gene may be part of the causal sources for the diversities of reproductive seasonality in goats. Our study may provide a possible efficient genetic way to decrease seasonality in goats.
甲状腺刺激激素β链(TSHB)主要在垂体中表达,其表达与动物季节性繁殖的光周期控制密切相关。本研究使用了 10 对引物来克隆山羊 TSHB 基因的 DNA 序列并检测其基因突变。获得了两个山羊 TSHB 基因的 DNA 片段,分别长 2614bp 和 1031bp,分别包含约 2.5kb 的 5'调控区、所有三个外显子和两个内含子。山羊 TSHB 基因的编码区长 417bp,编码 138 个氨基酸,预测为具有 16 个氨基酸信号肽的分泌蛋白。TSHB 基因在哺乳动物中高度保守。此外,在山羊 TSHB 基因中发现了五个突变(C53A、287-289 位 3bp 缺失、584-617 位 34bp 缺失、A1819C 和 E2_72TA),它们表现出强连锁不平衡。有趣的是,无论是单一位点还是单倍型的基因型分布在季节性和非季节性山羊品种之间都表现出显著差异。并且单倍型 H2 和二倍型 H2/H4 可能与全年发情有关。我们初步推测,山羊 TSHB 基因的这五个紧密连锁的突变可能是山羊繁殖季节性多样性的部分原因。我们的研究可能为减少山羊季节性提供一种有效的遗传途径。