Ran Xue-Qin, Pan Hua, Huang Shi-Hui, Liu Chang, Niu Xi, Li Sheng, Wang Jia-Fu
College of Animal Science/Institute of Agro-Bioengineering, Guizhou University, Guiyang, China.
Tongren University, Tongren, China.
J Anim Physiol Anim Nutr (Berl). 2018 May 24. doi: 10.1111/jpn.12922.
Copy number variation (CNV) is a major proportion of genetic variation, which changes the gene structure and dosage and affects gene expression and function. To validate the presence and the function of CNV in pig, we used real-time quantitative polymerase chain reaction (qPCR) method to validate a 496 kb CNV region comprising MTHFSD gene on chromosome 6 of Xiang pig detected by single nucleotide polymorphism (SNP) array. Then we investigated the distribution of the MTHFSD CNV in a total of 545 pigs in four breeds. About 46.2% and 32.7% individuals in the four pig breeds were detected to be types of loss and gain of MTHFSD locus. The relative copy numbers of MTHFSD gene showed the largest variation range (0-55 copies) in the Xiang pig population. The copy numbers of MTHFSD gene presented the positive correlations with the transcript level of MTHFSD gene in adult ovaries. Statistical analysis indicated that CNVs of MTHFSD gene was significantly changed the litter size traits of Xiang pigs, and the individuals with CNV gain showed more litter size than the CNV loss pigs. We have reasons to believe that the MTHFSD as RNA-binding protein play an important role in pig reproduction as a result of regulating MTHFS mRNA metabolism.
拷贝数变异（CNV）是遗传变异的主要组成部分，它会改变基因结构和剂量，并影响基因表达和功能。为了验证猪中CNV的存在及其功能，我们使用实时定量聚合酶链反应（qPCR）方法，对通过单核苷酸多态性（SNP）芯片检测到的香猪6号染色体上包含MTHFSD基因的496 kb CNV区域进行验证。然后，我们调查了MTHFSD CNV在四个品种共545头猪中的分布情况。在这四个猪品种中，分别检测到约46.2%和32.7%的个体为MTHFSD基因座的缺失型和增益型。MTHFSD基因的相对拷贝数在香猪群体中显示出最大的变化范围（0 - 55个拷贝）。MTHFSD基因的拷贝数与成年卵巢中MTHFSD基因的转录水平呈正相关。统计分析表明，MTHFSD基因的CNV显著改变了香猪的产仔数性状，且CNV增益型个体的产仔数多于CNV缺失型个体。我们有理由相信，作为RNA结合蛋白的MTHFSD通过调节MTHFS mRNA代谢，在猪的繁殖中发挥重要作用。
