Du Heng, Zheng Xianrui, Zhao Qiqi, Hu Zhengzheng, Wang Haifei, Zhou Lei, Liu Jian-Feng
National Engineering Laboratory for Animal Breeding, Key Laboratory of Animal Genetics, Breeding and Reproduction, Ministry of Agriculture, College of Animal Science and Technology, China Agricultural University, Beijing, China.
College of Animal Science and Technology, Yangzhou University, Yangzhou, China.
Front Genet. 2021 Feb 4;12:550676. doi: 10.3389/fgene.2021.550676. eCollection 2021.
Structural variants (SVs) represent essential forms of genetic variation, and they are associated with various phenotypic traits in a wide range of important livestock species. However, the distribution of SVs in the pig genome has not been fully characterized, and the function of SVs in the economic traits of pig has rarely been studied, especially for most domestic pig breeds. Meishan pig is one of the most famous Chinese domestic pig breeds, with excellent reproductive performance. Here, to explore the genome characters of Meishan pig, we construct an SV map of porcine using whole-genome sequencing data and report 33,698 SVs in 305 individuals of 55 globally distributed pig breeds. We perform selective signature analysis using these SVs, and a number of candidate variants are successfully identified. Especially for the Meishan pig, 64 novel significant selection regions are detected in its genome. A 140-bp deletion in the Indoleamine 2,3-Dioxygenase 2 () gene, is shown to be associated with reproduction traits in Meishan pig. In addition, we detect two duplications only existing in Meishan pig. Moreover, the two duplications are separately located in cytochrome P450 family 2 subfamily J member 2 () gene and phospholipase A2 group IVA (4A) gene, which are related to the reproduction trait. Our study provides new insights into the role of selection in SVs' evolution and how SVs contribute to phenotypic variation in pigs.
结构变异(SVs)是遗传变异的重要形式,与多种重要家畜物种的各种表型性状相关。然而,猪基因组中SVs的分布尚未得到充分表征,SVs在猪经济性状中的功能也鲜有研究,尤其是对于大多数家猪品种而言。梅山猪是中国最著名的家猪品种之一,具有优异的繁殖性能。在此,为探索梅山猪的基因组特征,我们利用全基因组测序数据构建了猪的SV图谱,并在全球分布的55个猪品种的305个个体中报告了33,698个SVs。我们使用这些SVs进行选择性特征分析,并成功鉴定出一些候选变异。特别是对于梅山猪,在其基因组中检测到64个新的显著选择区域。吲哚胺2,3-双加氧酶2(IDO2)基因中的一个140bp缺失被证明与梅山猪的繁殖性状相关。此外,我们检测到仅存在于梅山猪中的两个重复序列。而且,这两个重复序列分别位于细胞色素P450家族2亚家族J成员2(CYP2J2)基因和磷脂酶A2第四A组(PLA2G4A)基因中,它们与繁殖性状有关。我们的研究为选择在SVs进化中的作用以及SVs如何促成猪的表型变异提供了新的见解。