英国爱丁堡大学Lingzhao Fang、Albert Tenesa、华南农业大学Zhe Zhang、美国农业部George E. Liu和中国农业科学院Kui Li团队合作提供了猪组织的遗传调控效应汇总。该项研究成果发表在2024年1月4日出版的《自然-遗传学》上。

研究人员展示了PigGTEx试验阶段的成果，处理了5,457份符合质量控制的猪RNA测序样本和1,602份全基因组测序样本。研究人员建立了一个猪基因型估算模型，并将数百万个基因变异与34种组织中的五种转录组表型联系起来。研究人员证明了多组学数据评估调控效应的组织特异性并阐明其作用的分子机制。

利用这一资源，研究人员揭示了207种猪复杂表型背后的调控机制，并证明猪的基因表达和复杂表型背后的遗传调控机制与人类具有相似性，从而为猪作为人类生物医学模型提供了支持。

据了解，农场动物基因型-组织表达（FarmGTEx）项目旨在提供家畜基因调控变异的公共资源，这对于将基因多态性与表型变异联系起来至关重要，有助于动物育种和人类生物医学的发现和对基础生物学的利用。

附：英文原文

Title: A compendium of genetic regulatory effects across pig tissues

Author: Teng, Jinyan, Gao, Yahui, Yin, Hongwei, Bai, Zhonghao, Liu, Shuli, Zeng, Haonan, Bai, Lijing, Cai, Zexi, Zhao, Bingru, Li, Xiujin, Xu, Zhiting, Lin, Qing, Pan, Zhangyuan, Yang, Wenjing, Yu, Xiaoshan, Guan, Dailu, Hou, Yali, Keel, Brittney N., Rohrer, Gary A., Lindholm-Perry, Amanda K., Oliver, William T., Ballester, Maria, Crespo-Piazuelo, Daniel, Quintanilla, Raquel, Canela-Xandri, Oriol, Rawlik, Konrad, Xia, Charley, Yao, Yuelin, Zhao, Qianyi, Yao, Wenye, Yang, Liu, Li, Houcheng, Zhang, Huicong, Liao, Wang, Chen, Tianshuo, Karlskov-Mortensen, Peter, Fredholm, Merete, Amills, Marcel, Clop, Alex, Giuffra, Elisabetta, Wu, Jun, Cai, Xiaodian, Diao, Shuqi, Pan, Xiangchun, Wei, Chen, Li, Jinghui, Cheng, Hao, Wang, Sheng, Su, Guosheng, Sahana, Goutam, Lund, Mogens Sand, Dekkers, Jack C. M., Kramer, Luke, Tuggle, Christopher K., Corbett, Ryan, Groenen, Martien A. M., Madsen, Ole, Gdia, Marta, Rocha, Dominique, Charles, Mathieu, Li, Cong-jun, Pausch, Hubert, Hu, Xiaoxiang, Frantz, Laurent, Luo, Yonglun, Lin, Lin, Zhou, Zhongyin

Issue&Volume: 2024-01-04

Abstract: The Farm Animal Genotype-Tissue Expression (FarmGTEx) project has been established to develop a public resource of genetic regulatory variants in livestock, which is essential for linking genetic polymorphisms to variation in phenotypes, helping fundamental biological discovery and exploitation in animal breeding and human biomedicine. Here we show results from the pilot phase of PigGTEx by processing 5,457 RNA-sequencing and 1,602 whole-genome sequencing samples passing quality control from pigs. We build a pig genotype imputation panel and associate millions of genetic variants with five types of transcriptomic phenotypes in 34 tissues. We evaluate tissue specificity of regulatory effects and elucidate molecular mechanisms of their action using multi-omics data. Leveraging this resource, we decipher regulatory mechanisms underlying 207 pig complex phenotypes and demonstrate the similarity of pigs to humans in gene expression and the genetic regulation behind complex phenotypes, supporting the importance of pigs as a human biomedical model.

DOI: 10.1038/s41588-023-01585-7

Source: https://www.nature.com/articles/s41588-023-01585-7