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谌佳琪, 张明鹏, 童信凯, 李井泉, 张洲, 黄菲, 杜慧鹏, 周梦, 艾华水, 黄路生. 2022: 内源性逆转录病毒序列在猪基因组中的搜寻及其在中西方猪品种中的拷贝数变异和序列多样性调查. 动物学研究, 43(3): 423-441. DOI: 10.24272/j.issn.2095-8137.2021.379
引用本文: 谌佳琪, 张明鹏, 童信凯, 李井泉, 张洲, 黄菲, 杜慧鹏, 周梦, 艾华水, 黄路生. 2022: 内源性逆转录病毒序列在猪基因组中的搜寻及其在中西方猪品种中的拷贝数变异和序列多样性调查. 动物学研究, 43(3): 423-441. DOI: 10.24272/j.issn.2095-8137.2021.379
Jia-Qi Chen, Ming-Peng Zhang, Xin-Kai Tong, Jing-Quan Li, Zhou Zhang, Fei Huang, Hui-Peng Du, Meng Zhou, Hua-Shui Ai, Lu-Sheng Huang. 2022. Scan of the endogenous retrovirus sequences across the swine genome and survey of their copy number variation and sequence diversity among various Chinese and Western pig breeds. Zoological Research, 43(3): 423-441. DOI: 10.24272/j.issn.2095-8137.2021.379
Citation: Jia-Qi Chen, Ming-Peng Zhang, Xin-Kai Tong, Jing-Quan Li, Zhou Zhang, Fei Huang, Hui-Peng Du, Meng Zhou, Hua-Shui Ai, Lu-Sheng Huang. 2022. Scan of the endogenous retrovirus sequences across the swine genome and survey of their copy number variation and sequence diversity among various Chinese and Western pig breeds. Zoological Research, 43(3): 423-441. DOI: 10.24272/j.issn.2095-8137.2021.379

内源性逆转录病毒序列在猪基因组中的搜寻及其在中西方猪品种中的拷贝数变异和序列多样性调查

Scan of the endogenous retrovirus sequences across the swine genome and survey of their copy number variation and sequence diversity among various Chinese and Western pig breeds

  • 摘要: 在猪-人异种移植中,猪内源性逆转录病毒(PERV)的传播风险备受关注。然而,PERV在猪基因组中的分布、它们在欧亚猪中的遗传变异以及它们的进化史尚不清楚。我们根据序列相似性在当前猪参考基因组(11.1版)中搜寻了PERV,检测到36个长的完整或接近完整的PERV(lcPERV)和23个短的不完整PERV(siPERV)。除了三种已知PERV(PERV-A、-B和-C),该研究还检测到四种新的PERV类型(PERV-JX1、-JX2、-JX3和-JX4)。进化分析表明,新发现的PERV更古老,PERV-B可能在50万年前经历了多样性骤降。通过分析63个高质量猪全基因组测序数据,我们发现中国猪的PERV拷贝数(32.0 ± 4.0)低于西方猪的(49.1 ± 6.5)。此外,中国猪的PERV序列多样性也低于西方猪。在这些lcPERV中,西方猪的PERV-A和-JX2显著高于中国猪。值得注意的是,巴马香猪的PERV拷贝数最低(27.8±5.1),其中一头巴马香猪没有PERV-C,且PERV拷贝数是最低的(23)。这表明巴马香猪更适合作为异种移植供体进行筛选或被修饰。此外,我们还鉴定了451个PERV插入多态性位点,其中86个是10个中国和西方猪品种所共有的。我们的研究发现为PERV的基因组分布、变异、进化和可能的生物学功能提供了系统的见解。

     

    Abstract: In pig-to-human xenotransplantation, the transmission risk of porcine endogenous retroviruses (PERVs) is of great concern. However, the distribution of PERVs in pig genomes, their genetic variation among Eurasian pigs, and their evolutionary history remain unclear. We scanned PERVs in the current pig reference genome (assembly Build 11.1), and identified 36 long complete or near-complete PERVs (lcPERVs) and 23 short incomplete PERVs (siPERVs). Besides three known PERVs (PERV-A, -B, and -C), four novel types (PERV-JX1, -JX2, -JX3, and -JX4) were detected in this study. According to evolutionary analyses, the newly discovered PERVs were more ancient, and PERV-Bs probably experienced a bottleneck ~0.5 million years ago (Ma). By analyzing 63 high-quality porcine whole-genome resequencing data, we found that the PERV copy numbers in Chinese pigs were lower (32.0±4.0) than in Western pigs (49.1±6.5). Additionally, the PERV sequence diversity was lower in Chinese pigs than in Western pigs. Regarding the lcPERV copy numbers, PERV-A and -JX2 in Western pigs were higher than in Chinese pigs. Notably, Bama Xiang (BMX) pigs had the lowest PERV copy number (27.8±5.1), and a BMX individual had no PERV-C and the lowest PERV copy number (23), suggesting that BMX pigs were more suitable for screening and/or modification as xenograft donors. Furthermore, we identified 451 PERV transposon insertion polymorphisms (TIPs), of which 86 were shared by all 10 Chinese and Western pig breeds. Our findings provide systematic insights into the genomic distribution, variation, evolution, and possible biological function of PERVs.

     

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