Suppr超能文献

从全基因组重测序角度解析实验用猪品种的遗传多样性和适应性特征。

Unraveling the genetic diversity and adaptive traits of laboratory pig breeds within the perspective of whole - genome resequencing.

作者信息

Yuan Haonan, Li Changwen, Zhao Shengguo, Yang Yanan, Chao Zhe, Xia Changyou, Quan Jinqiang, Gao Caixia

机构信息

College of Animal Science & Technology, Gansu Agricultural University, Lanzhou, 730070, China.

State Key Laboratory for Animal Disease Control and Prevention, Heilongjiang Provincial Key Laboratory of Laboratory Animal and Comparative Medicine, Harbin Veterinary Research Institute, Chinese Academy of Agricultural Sciences (CAAS), National Poultry Laboratory Animal Resource Center, Harbin, 150069, PR China.

出版信息

BMC Genomics. 2025 Jul 1;26(1):604. doi: 10.1186/s12864-025-11790-9.

Abstract

As one of the most widely used animal models for human disease research, pigs play a critical role in elucidating disease pathogenesis. However, the genetic characteristics of experimental pig breeds remain underexplored. This study employed whole-genome resequencing to investigate three representative Chinese indigenous pig breeds and two commercial European breeds. Our analysis revealed that indigenous breeds harbor 16.3 million genetic variants (88.3% SNPs), with higher nucleotide diversity compared to commercial breeds. Selective sweep analysis using Fst and π identified key genes under strong selection, including immune regulators (BTK, IL2RG, RASGRP1), metabolic gene MED12, and neuro-associated SDR16C5, with five genes exhibiting significant allele frequency divergence between populations (P < 0.05). Notably, two signature selective regions on chromosome 6 (181,025-182,387 bp and 144,185,871-144,313,689 bp) were identified, containing fixed missense mutations in coat color gene MC1R (p.T305C/p.G283A) and vision-related gene RPE65 (p.G1503A), indicating strong artificial selection for phenotypic traits. This work systematically characterizes the high genetic diversity of Chinese indigenous pigs and their genomic advantages as disease models, providing critical insights for developing precision biomedical animal models.

摘要

作为人类疾病研究中使用最广泛的动物模型之一,猪在阐明疾病发病机制方面发挥着关键作用。然而,实验猪品种的遗传特征仍未得到充分探索。本研究采用全基因组重测序技术,对三个具有代表性的中国本土猪品种和两个欧洲商业品种进行了调查。我们的分析表明,本土品种含有1630万个遗传变异(88.3%为单核苷酸多态性),与商业品种相比,其核苷酸多样性更高。使用Fst和π进行的选择性清除分析确定了受到强烈选择的关键基因,包括免疫调节因子(BTK、IL2RG、RASGRP1)、代谢基因MED12和神经相关基因SDR16C5,其中五个基因在群体间表现出显著的等位基因频率差异(P<0.05)。值得注意的是,在6号染色体上鉴定出两个选择性信号区域(181,025 - 182,387 bp和144,185,871 - 144,313,689 bp),其中毛色基因MC1R(p.T305C/p.G283A)和视觉相关基因RPE65(p.G1503A)存在固定的错义突变,表明对表型性状进行了强烈的人工选择。这项工作系统地描述了中国本土猪的高遗传多样性及其作为疾病模型的基因组优势,为开发精准生物医学动物模型提供了关键见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d41d/12210543/79c38bd03f94/12864_2025_11790_Fig1_HTML.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验