北京黑猪FUBP3和USP43基因多态性与眼肌面积性状的关联分析

旨在研究上游远端元件结合蛋白3(far upstream element binding protein 3，FUBP3)及泛素特异性蛋白酶43(ubiquitin specific protease 43，USP43)基因多态性与北京黑猪眼肌面积性状的关系，从而在分子水平指导北京黑猪的育种工作。本研究选取408头北京黑猪收集眼肌面积性状数据并采集肉样提取DNA，根据FUBP3和USP43基因序列设计43对引物进行PCR扩增及测序，运用DNAstar软件分析测序结果，对FUBP3和USP43基因不同基因型与北京黑猪眼肌面积性状进行关联分析并运用荧光定量PCR对两基因进行基因表达差异分析。在FUBP3基因启动子区共有8个突变，其中rs701769847G>A与5~6肋眼肌面积和最后肋眼肌面积均关联显著(P<0.05)，rs332131528C>G仅与5~6肋眼肌面积关联显著(P<0.05)，rs325550799T>C、rs339464012T>C和rs326069041T>C只与最后肋眼肌面积关联显著(P<0.05);基因表达差异分析表明，rs701769847G>A位点GG型个体的FUBP3基因mRNA水平显著低于AA型个体(P<0.05)。USP43基因启动子区的rs335310752C>T和剪切区的rs323463345G>A均只与最后肋眼肌面积关联显著(P<0.05)。基因表达差异分析表明，rs323463345G>A中GG型个体和AA型个体的USP43基因mRNA水平差异不显著。上述两基因中共有两个位点与5~6肋眼肌面积性状关联显著(P<0.05)，6个位点与最后肋眼肌面积性状关联显著(P<0.05),可以作为北京黑猪眼肌面积性状变异的候选基因功能位点，也可以作为潜在的眼肌面积性状分子标记。

Association of FUBP3 and USP43 Gene Polymorphisms with Loin Muscle Area in Beijing Black Pigs

The study aimed to investigate the relationship between far upstream element binding protein 3 (FUBP3) or ubiquitin specific peptidase 43 (USP43) gene polymorphisms and loin muscle area traits in Beijing black pigs, so as to guide the breeding work at the molecular level. A total of 408 Beijing black pigs were selected to collect data on loin muscle area traits and meat samples for DNA extraction. A total of 43 pairs of primers were designed for PCR amplification and sequencing according to FUBP3 and USP43 genes sequence, and the sequencing results were analyzed by DNAstar software. Association analysis was performed on different genotypes of FUBP3 and USP43 genes with loin muscle area traits of Beijing black pigs, and gene expression differences of the two genes were analyzed by fluorescent quantitative PCR. There were 8 mutations in the promoter region of FUBP3 gene, among which rs701769847G>A was significantly associated with the 5-6 rib loin muscle area and the last rib loin muscle area(P<0.05), rs332131528C>G was only significantly associated with 5-6 rib loin muscle area (P<0.05), rs325550799T>C, rs339464012T>C and rs326069041T>C were only significantly associated with the last rib loin muscle area (P<0.05). Differential gene expression analysis showed that the mRNA level of FUBP3 gene in individuals with GG genotype at rs701769847G>A was significantly lower than those with AA genotype(P<0.05). rs335310752C>T in the promoter region and rs323463345G>A in the shear region of USP43 gene were both significantly associated with the last rib loin muscle area (P<0.05). Differential gene expression analysis showed that the mRNA levels of USP43 gene in rs323463345G>A were not significantly different between GG-type individuals and AA-type individuals. Two loci in the above two genes were significantly associated with 5-6 rib loin muscle area trait (P<0.05), and 6 loci were significantly associated with the last rib loin muscle area traits(P<0.05)， which can be used as candidate genes for loin muscle area trait variation in Beijing black pigs, and as potential molecular markers for loin muscle area traits.