Garrett A J, Rincon G, Medrano J F, Elzo M A, Silver G A, Thomas M G
New Mexico State University, Las Cruces 88003, USA.
J Anim Sci. 2008 Dec;86(12):3315-23. doi: 10.2527/jas.2008-0990. Epub 2008 Aug 1.
Expression of the GH receptor (GHR) gene and its binding with GH is essential for growth and fat metabolism. A GT microsatellite exists in the promoter of bovine GHR segregating short (11 bp) and long (16 to 20 bp) allele sequences. To detect SNP and complete an association study of genotype to phenotype, we resequenced a 1,195-bp fragment of DNA including the GT microsatellite and exon 1A. Resequencing was completed in 48 familialy unrelated Holstein, Jersey, Brown Swiss, Simmental, Angus, Brahman, and Brangus cattle. Nine SNP were identified. Phylogeny analyses revealed minor distance (i.e., <5%) in DNA sequence among the 5 Bos taurus breeds; however, sequence from Brahman cattle averaged 27.4 +/- 0.07% divergence from the Bos taurus breeds, whereas divergence of Brangus was intermediate. An association study of genotype to phenotype was completed with data from growing Brangus bulls (n = 553 from 96 sires) and data from 4 of the SNP flanking the GT microsatellite. These SNP were found to be in Hardy-Weinberg equilibrium and in phase based on linkage disequilibrium analyses (r(2) = 0.84 and D'= 0.92). An A/G tag SNP was identified (ss86273136) and was located in exon 1A, which began 88 bp downstream from the GT microsatellite. Minor allele frequency of the tag SNP was greater than 10%, and Mendelian segregation was verified in 3 generation pedigrees. The A allele was derived from Brahman, and the G allele was derived from Angus. This tag SNP genotype was a significant effect in analyses of rib fat data collected with ultrasound when bulls were ~365 d of age. Specifically, bulls of the GG genotype had 6.1% more (P = 0.0204) rib fat than bulls of the AA and AG genotypes, respectively. Tag SNP (ss86273136), located in the promoter of GHR, appears to be associated with a measure of corporal fat in Bos taurus x Bos indicus composite cattle.
生长激素受体(GHR)基因的表达及其与生长激素的结合对于生长和脂肪代谢至关重要。牛GHR基因启动子中存在一个GT微卫星,其短(11 bp)和长(16至20 bp)等位基因序列存在分离。为了检测单核苷酸多态性(SNP)并完成基因型与表型的关联研究,我们对包含GT微卫星和外显子1A的1195 bp DNA片段进行了重测序。对48头无亲缘关系的荷斯坦牛、泽西牛、瑞士褐牛、西门塔尔牛、安格斯牛、婆罗门牛和婆罗格斯牛完成了重测序。共鉴定出9个SNP。系统发育分析显示,5个黄牛品种的DNA序列差异较小(即<5%);然而,婆罗门牛的序列与黄牛品种的平均差异为27.4±0.07%,而婆罗格斯牛的差异处于中间水平。利用生长中的婆罗格斯公牛(来自96头公牛的553头牛)的数据以及GT微卫星两侧4个SNP的数据,完成了基因型与表型的关联研究。基于连锁不平衡分析(r2 = 0.84和D' = 0.92),发现这些SNP处于哈迪-温伯格平衡且处于连锁相。鉴定出一个A/G标签SNP(ss86273136),其位于外显子1A中,起始于GT微卫星下游88 bp处。标签SNP的次要等位基因频率大于10%,并且在三代家系中验证了孟德尔分离。A等位基因来自婆罗门牛,G等位基因来自安格斯牛。当公牛约365日龄时,该标签SNP基因型在超声采集的肋部脂肪数据分析中具有显著影响。具体而言,GG基因型的公牛肋部脂肪分别比AA和AG基因型的公牛多6.1%(P = 0.0204)。位于GHR启动子中的标签SNP(ss86273136)似乎与黄牛×印度瘤牛杂交牛的体脂测量值相关。