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A compendium of genetic regulatory effects across pig tissues
Nature Genetics ( IF 31.7 ) Pub Date : 2024-01-04 , DOI: 10.1038/s41588-023-01585-7
Jinyan Teng 1 , Yahui Gao 1, 2, 3 , Hongwei Yin 4 , Zhonghao Bai 5, 6 , Shuli Liu 2, 7 , Haonan Zeng 1 , , Lijing Bai 4 , Zexi Cai 5 , Bingru Zhao 8 , Xiujin Li 9 , Zhiting Xu 1 , Qing Lin 1 , Zhangyuan Pan 10, 11 , Wenjing Yang 8, 10 , Xiaoshan Yu 6 , Dailu Guan 10 , Yali Hou 12 , Brittney N Keel 13 , Gary A Rohrer 13 , Amanda K Lindholm-Perry 13 , William T Oliver 13 , Maria Ballester 14 , Daniel Crespo-Piazuelo 14 , Raquel Quintanilla 14 , Oriol Canela-Xandri 6 , Konrad Rawlik 15 , Charley Xia 16, 17 , Yuelin Yao 6, 18 , Qianyi Zhao 4 , Wenye Yao 4, 19 , Liu Yang 4 , Houcheng Li 5 , Huicong Zhang 5 , Wang Liao 6 , Tianshuo Chen 6 , Peter Karlskov-Mortensen 20 , Merete Fredholm 20 , Marcel Amills 21, 22 , Alex Clop 21, 23 , Elisabetta Giuffra 24 , Jun Wu 1 , Xiaodian Cai 1 , Shuqi Diao 1 , Xiangchun Pan 1 , Chen Wei 1 , Jinghui Li 10 , Hao Cheng 10 , Sheng Wang 25 , Guosheng Su 5 , Goutam Sahana 5 , Mogens Sandø Lund 5 , Jack C M Dekkers 26 , Luke Kramer 26 , Christopher K Tuggle 26 , Ryan Corbett 26 , Martien A M Groenen 19 , Ole Madsen 19 , Marta Gòdia 19, 21 , Dominique Rocha 24 , Mathieu Charles 27 , Cong-Jun Li 2 , Hubert Pausch 28 , Xiaoxiang Hu 29 , Laurent Frantz 30, 31 , Yonglun Luo 32, 33, 34 , Lin Lin 32, 33 , Zhongyin Zhou 25 , Zhe Zhang 35 , Zitao Chen 35 , Leilei Cui 36, 37, 38 , Ruidong Xiang 39, 40 , Xia Shen 41, 42, 43 , Pinghua Li 44 , Ruihua Huang 44 , Guoqing Tang 45 , Mingzhou Li 45 , Yunxiang Zhao 46 , Guoqiang Yi 4 , Zhonglin Tang 4 , Jicai Jiang 47 , Fuping Zhao 11 , Xiaolong Yuan 1 , Xiaohong Liu 48 , Yaosheng Chen 48 , Xuewen Xu 49 , Shuhong Zhao 49 , Pengju Zhao 50 , Chris Haley 6, 51 , Huaijun Zhou 10 , Qishan Wang 35 , Yuchun Pan 35 , Xiangdong Ding 8 , Li Ma 3 , Jiaqi Li 1 , Pau Navarro 6, 51 , Qin Zhang 52 , Bingjie Li 53 , Albert Tenesa 6, 51 , Kui Li 4 , George E Liu 2 , Zhe Zhang 1 , Lingzhao Fang 5, 6
Affiliation  

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.



中文翻译:


猪组织中遗传调控作用的纲要



农场动物基因型-组织表达 (FarmGTEx) 项目已经建立,旨在开发牲畜遗传调控变异的公共资源,这对于将遗传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基础生物学发现和开发。在这里,我们展示了 PigGTEx 试点阶段的结果,通过处理 5,457 个 RNA 测序和 1,602 个通过猪质量控制的全基因组测序样本。我们建立了一个猪基因型插补面板,并将数百万个遗传变异与 34 个组织中的五种转录组表型相关联。我们使用多组学数据评估调节作用的组织特异性并阐明其作用的分子机制。利用这一资源,我们破译了 207 种猪复合体表型背后的调控机制,并证明了猪与人类在基因表达方面的相似性以及复杂表型背后的遗传调控,支持了猪作为人类生物医学模型的重要性。

更新日期:2024-01-04
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