The effect of variants in the promoter of BMPER on the intramuscular fat deposition in longissimus dorsi muscle of pigs
The effect of variants in the promoter of BMPER on the intramuscular fat deposition in longissimus dorsi muscle of pigs
复制标题
BMPER启动子变异对猪背最长肌肌内脂肪沉积的影响
DOI：
10.1016/j.gene.2014.03.038
复制
发表时间：
2014-06-01
期刊：
影响因子：
3.5
通讯作者：
Chen, Jie
中科院分区：
文献类型：
--
作者：
Liu, Zhi;Sun, Wenxing;Chen, Jie
本研究的目的是评估BMPER启动子SNP对背最长肌基因表达和肌内脂肪含量的贡献。首先，用高（H）和低（L）IMF含量的两组（每组n = 15）混合DNA，通过直接测序对BMPER启动子区进行比较扫描。两个SNP，c. - 1423 A> G和C。- 1344 A> C等位基因在两组中呈反向分布。PCR-SSCP分析结果显示，两个SNP位点完全连锁，仅形成A-A或G-C单倍型。A-A/A-A基因型的IMF含量和BMPER表达水平均高于G-C/G-C基因型，荧光素酶检测结果显示A-A单倍型的启动子活性也高于G-C单倍型。推测的转录因子预测表明，c。- 1344 A > C突变可能改变启动子与GATA的结合亲和力。因此，BMPER基因启动子多态性对IMF含量有影响，A-A单倍型可作为IMF沉积的候选遗传标记。(C)2014爱思唯尔有限公司版权所有。
The aim of the study was to evaluate the contribution of BMPER promoter SNPs to the gene expression and intramuscular fat content in longissimus dorsi muscle. Firstly the promoter region of BMPER was comparatively scanned by direct sequencing with pool DNA of two groups (n = 15 for each group) with high (H) or low (L) IMF content. Two SNPs, c. - 1423A > G and c. - 1344A > C, were found to have reverse allele distribution in the two groups. Genotyping by PCR-SSCP in a larger population revealed that the two SNPs interlock completely to form only A-A or G-C haplotype. The IMF content and BMPER expression level of A-A/A-A genotype were higher than G-C/G-C genotype, and luciferase assay revealed that A-A haplotype promoter activity was also higher than G-C haplotype. Putative transcription factor prediction suggested that c. - 1344 A > C mutation might shift the promoter binding affinity with GATAs. We concluded that BMPER promoter polymorphisms have an effect on IMF content, and A-A haplotype could be used as a candidate genetic marker for preferable IMF deposition. (C) 2014 Elsevier B.V. All rights reserved.