College of Animal Science and Technology, Northwest A&F University, Shaanxi Key Laboratory of Molecular Biology for Agriculture, Yangling Shaanxi 712100, China.
Genome. 2011 Jun;54(6):507-16. doi: 10.1139/g11-016.
The aim of this study was to examine the association of the SREBP-1c polymorphism with growth traits in cattle breeds. Five sequence variants (SVs) were identified within the bovine sterol regulatory element-binding protein-1c gene (SREBP-1c), using DNA sequencing, PCR, PCR–RFLP, and forced PCR–RFLP methods. These polymorphisms include three missense mutations (SV1, SV4, and SV5) in exons 7, 9, and 12, a silent mutation (SV3) in exon 9, and a large deletion (SV2) in intron 7. Overall, we report the validation of polymorphisms within the bovine SREBP-1c gene, and the haplotype variability and extent of linkage disequilibrium (LD) in 1061 individuals representing the five main cattle breeds from China. We also investigated haplotype frequencies and LD coefficients for five SVs in all study populations. LD and haplotype structure of SREBP-1c were different between breeds. The result of haplotype analysis of five SVs showed that 27 different haplotypes were identified by all breeds. Two haplotypes (Hap1 and Hap2) shared by all five populations accounted for 42.75%, 35.68%, 36.44%, 25.43%, and 96.26% of all haplotypes observed in the cattle breeds Nanyang, Qinchuan, Jiaxian, Jinnan, and Chinese Holstein, respectively. The statistical analyses indicated that one single SV and 38 combined haplotypes were significantly associated with growth traits in the Nanyang cattle population (P < 0.05 or P < 0.01). The results of this study suggest that the SREBP-1c gene possibly is a strong candidate gene that affects growth traits in the Chinese beef cattle breeding program.
本研究旨在探讨 SREBP-1c 多态性与牛品种生长性状的关系。使用 DNA 测序、PCR、PCR-RFLP 和强制 PCR-RFLP 方法，在牛固醇调节元件结合蛋白-1c 基因 (SREBP-1c) 中鉴定出 5 个序列变异 (SVs)。这些多态性包括外显子 7、9 和 12 中的 3 个错义突变 (SV1、SV4 和 SV5)、外显子 9 中的一个沉默突变 (SV3) 和内含子 7 中的一个大片段缺失 (SV2)。总的来说，我们报告了牛 SREBP-1c 基因内多态性的验证，以及 1061 个个体代表中国五个主要牛品种的单倍型变异性和连锁不平衡 (LD) 的程度。我们还调查了所有研究群体中 5 个 SV 的单倍型频率和 LD 系数。SREBP-1c 的 LD 和单倍型结构在品种之间存在差异。五个 SV 的单倍型分析结果表明，所有五个群体共鉴定出 27 个不同的单倍型。由所有五个群体共享的两个单倍型 (Hap1 和 Hap2) 分别占南阳、秦川、佳县、晋南和中国荷斯坦牛品种所有观察到的单倍型的 42.75%、35.68%、36.44%、25.43%和 96.26%。统计分析表明，一个单一的 SV 和 38 个组合单倍型与南阳牛群体的生长性状显著相关 (P<0.05 或 P<0.01)。本研究结果表明，SREBP-1c 基因可能是影响中国肉牛育种计划生长性状的一个强候选基因。
