Article, Early Access, 2024
A compendium of genetic regulatory effects across pig tissues
NATURE GENETICS, ISSN 1061-4036, 1061-4036, Volume 56, 1, 10.1038/s41588-023-01585-7
Contributors
Teng, Jinyan 0000-0002-3046-1452 [1] Gao, Yahui 0000-0003-4044-2295 [1] [2] [3] [4] [5] [6] [7] Yin, Hongwei [5] [6] [7] [8] Bai, Zhonghao [8] [9] Liu, Shuli 0000-0002-8988-8899 [10] Zeng, Haonan Bai, Lijing [5] [6] [7] Cai, Zexi 0000-0002-9579-3415 Zhao, Bingru [11] Li, Xiujin [12] Xu, Zhiting 0000-0001-8830-3580 [1] Lin, Qing [1] Pan, Zhangyuan 0000-0001-5394-3203 [5] [13] [14] [15] Yang, Wenjing 0000-0002-1101-8893 [11] [14] [15] Yu, Xiaoshan [9] Guan, Dailu [14] [15] Hou, Yali 0000-0002-7421-2431 [16] [17] [18] Keel, Brittney N. [4] Rohrer, Gary A. [4] Lindholm-Perry, Amanda K. [4] Oliver, William T. [4] Ballester, Maria 0000-0002-5413-4640 [19] Crespo-Piazuelo, Daniel 0000-0001-7896-2507 [19] Quintanilla, Raquel [19] Canela-Xandri, Oriol 0000-0003-4601-6289 Rawlik, K. [9] Xia, Charley [9] Yao, Yuelin [9] Zhao, Qianyi 0000-0002-4113-3155 Yao, Wenye [20] Yang, Liu [5] [6] [7] Li, Houcheng Zhang, Huicong 0000-0003-0392-7541 Liao, Wang Chen, Tianshuo Karlskov-Mortensen, Peter [21] Fredholm, Merete [21] Amills, Marcel [19] [22] [23] [24] [25] Clop, Alex [19] [22] [23] [24] [25] Giuffra, Elisabetta [26] [27] [28] Wu, Jun Cai, Xiaodian Diao, Shuqi 0000-0002-7017-7595 [1] Pan, Xiangchun [1] Wei, Chen 0000-0001-7615-4215 [1] Li, Jinghui 0000-0002-5074-8346 Cheng, Hao Wang, Sheng [18] [29] Su, Guosheng Sahana, Goutam Lund, Mogens Sando Dekkers, Jack C. [30] Kramer, Luke [30] Tuggle, Christopher K. 0000-0002-4229-5316 [30] Corbett, Ryan [30] Groenen, Martien A. M. Madsen, O. Godia, Marta [25] Rocha, Dominique [18] [26] [27] [28] [29] Charles, Mathieu [26] [27] [28] Li, Cong-jun [4] Pausch, Hubert 0000-0002-0501-6760 [31] [32] Hu, Xiaoxiang 0000-0001-7045-0283 [11] Frantz, Laurent [33] [34] [35] Luo, Yonglun [8] [36] Lin, Lin [8] Zhou, Zhongyin Zhang, Zhe [1] [37] Chen, Zitao 0000-0001-7862-6343 [37] Cui, Leilei 0000-0002-2745-6863 [35] [38] [39] [40] Xiang, Ruidong [41] [42] Shen, Xia [9] [43] Li, Pinghua [44] Huang, Ruihua 0000-0002-4722-2271 [44] Tang, Guoqing [45] Li, Mingzhou [45] Zhao, Yunxiang 0009-0008-8349-0936 [46] Yi, Guoqiang 0000-0001-8248-9126 [5] [6] [7] Tang, Zhonglin 0000-0002-4538-4349 [5] [6] [7] Jiang, Jicai [47] Zhao, Fuping 0000-0001-9582-5993 Yuan, Xiaolong [48] Liu, Xiaohong [48] Chen, Yaosheng Xu, Xuewen 0000-0001-6925-3346 Zhao, Shuhong 0000-0002-3997-2320 [49] Zhao, Pengju 0000-0001-6990-1147 [37] [49] Haley, C. S. 0000-0002-9811-0210 [9] [50] [51] [52] Zhou, Huaijun 0000-0001-6023-9521 Wang, Qishan 0000-0003-3886-3883 Pan, Yuchun 0000-0002-1163-5963 Ding, Xiangdong [11] Ma, Li Li, Jiaqi 0000-0002-6674-098X Navarro, Pau 0000-0001-5576-8584 [9] Zhang, Qin [53] Li, Bingjie 0000-0002-6540-5557 Tenesa, Albert (Corresponding author) [9] [50] [51] [52] [54] Li, Kui 0000-0001-5280-6098 (Corresponding author) [5] [6] [7] Liu, George E. (Corresponding author) [4] Zhang, Zhe (Corresponding author) [1] Fang, Lingzhao (Corresponding author) [9] PigGTEx ConsortiumAffiliations
- [1] South China Agr Univ SCAU, Coll Anim Sci, Guangdong Prov Key Lab Agro Anim Genom & Mol Bree, Natl Engn Res Ctr Breeding Swine Ind,State Key La, Guangzhou, Peoples R China [NORA names: China; Asia, East];
- [2] Univ Maryland, Dept Anim & Avian Sci, College Pk, MD USA [NORA names: United States; America, North; OECD];
- [3] Univ Maryland, Dept Anim & Avian Sci, College Pk, MD USA [NORA names: United States; America, North; OECD];
- [4] ARS, Anim Genom & Improvement Lab, Henry A Wallace Beltsville Agr Res Ctr, USDA, Beltsville, MD 20705 USA [NORA names: United States; America, North; OECD];
- [5] Chinese Acad Agr Sci, Agr Genom Inst Shenzhen, Guangdong Lab Lingnan Modern Agr,Shenzhen Branch, Key Lab Livestock & Poultry Multi Omics MARA, Shenzhen, Peoples R China [NORA names: China; Asia, East];
- [6] Chinese Acad Agr Sci, Agr Genom Inst Shenzhen, Guangdong Lab Lingnan Modern Agr,Shenzhen Branch, Key Lab Livestock & Poultry Multi Omics MARA, Shenzhen, Peoples R China [NORA names: China; Asia, East];
- [7] Chinese Acad Agr Sci, Agr Genom Inst Shenzhen, Guangdong Lab Lingnan Modern Agr,Shenzhen Branch, Key Lab Livestock & Poultry Multi Omics MARA, Shenzhen, Peoples R China [NORA names: China; Asia, East];
- [8] Aarhus Univ Hosp, STENO Diabet Ctr Aarhus, Aarhus, Denmark [NORA names: AU Aarhus University; University; Denmark; Europe, EU; Nordic; OECD];
- [9] Univ Edinburgh, Baillie Gifford Pandem Sci Hub, Edinburgh, Midlothian, Scotland [NORA names: United Kingdom; Europe, Non-EU; OECD];
- [10] Westlake Univ, Sch Life Sci, Hangzhou, Peoples R China [NORA names: China; Asia, East];
- [11] China Agr Univ, Coll Anim Sci & Technol, Beijing, Peoples R China [NORA names: China; Asia, East];
- [12] Zhongkai Univ Agr & Engn, Coll Anim Sci & Technol, Guangdong Prov Key Lab Waterfowl Hlth Breeding, Guangzhou, Peoples R China [NORA names: China; Asia, East];
- [13] Chinese Acad Agr Sci, Inst Anim Sci, Beijing, Peoples R China [NORA names: China; Asia, East];
- [14] Univ Calif Davis, Dept Anim Sci, Davis, CA USA [NORA names: United States; America, North; OECD];
- [15] Univ Calif Davis, Dept Anim Sci, Davis, CA USA [NORA names: United States; America, North; OECD];
- [16] Chinese Acad Sci, Beijing Inst Genom, Beijing, Peoples R China [NORA names: China; Asia, East];
- [17] China Natl Ctr Bioinformat, Beijing, Peoples R China [NORA names: China; Asia, East];
- [18] Chinese Acad Sci, Beijing Inst Genom, Beijing, Peoples R China [NORA names: China; Asia, East];
- [19] Inst Recerca Tecnol Agroalimentaries IRTA, Anim Breeding & Genet Programme, Caldes De Montbui, Spain [NORA names: Spain; Europe, EU; OECD];
- [20] Wageningen Univ & Res, Anim Breeding & Genom, Wageningen, Netherlands [NORA names: Netherlands; Europe, EU; OECD];
- [21] Univ Copenhagen, Dept Vet & Anim Sci, Anim Genet Bioinformat & Breeding, Copenhagen, Denmark [NORA names: KU University of Copenhagen; University; Denmark; Europe, EU; Nordic; OECD];
- [22] Univ Autonoma Barcelona, Ctr Res Agr Genom CRAG, Dept Anim Genet, CSIC IRTA UAB UB, Bellaterra, Spain [NORA names: Spain; Europe, EU; OECD];
- [23] CSIC, Barcelona, Spain [NORA names: Spain; Europe, EU; OECD];
- [24] Univ Autonoma Barcelona, Ctr Res Agr Genom CRAG, Dept Anim Genet, CSIC IRTA UAB UB, Bellaterra, Spain [NORA names: Spain; Europe, EU; OECD];
- [25] Univ Autonoma Barcelona, Ctr Res Agr Genom CRAG, Dept Anim Genet, CSIC IRTA UAB UB, Bellaterra, Spain [NORA names: Spain; Europe, EU; OECD];
- [26] Paris Saclay Univ, INRAE, AgroParisTech, GABI, Jouy En Josas, France [NORA names: France; Europe, EU; OECD];
- [27] Paris Saclay Univ, INRAE, AgroParisTech, GABI, Jouy En Josas, France [NORA names: France; Europe, EU; OECD];
- [28] Paris Saclay Univ, INRAE, AgroParisTech, GABI, Jouy En Josas, France [NORA names: France; Europe, EU; OECD];
- [29] Chinese Acad Sci, Kunming Inst Zool, State Key Lab Genet Resources & Evolut, Kunming, Yunnan, Peoples R China [NORA names: China; Asia, East];
- [30] Iowa State Univ, Dept Anim Sci, Ames, IA USA [NORA names: United States; America, North; OECD];
- [31] Swiss Fed Inst Technol, Animal Genom, Univ Str 2, Zurich, Switzerland [NORA names: Switzerland; Europe, Non-EU; OECD];
- [32] Swiss Fed Inst Technol, Animal Genom, Univ Str 2, Zurich, Switzerland [NORA names: Switzerland; Europe, Non-EU; OECD];
- [33] Queen Mary Univ London, Sch Biol & Behav Sci, London, England [NORA names: United Kingdom; Europe, Non-EU; OECD];
- [34] Ludwig Maximilians Univ Munchen, Dept Vet Sci, Palaeogen Grp, Munich, Germany [NORA names: Germany; Europe, EU; OECD];
- [35] Queen Mary Univ London, Sch Biol & Behav Sci, London, England [NORA names: United Kingdom; Europe, Non-EU; OECD];
- [36] Qingdao Europe Adv Inst Life Sci, Lars Bolund Inst Regenerat Med, BGI Res, Qingdao, Peoples R China [NORA names: China; Asia, East];
- [37] Zhejiang Univ, Coll Anim Sci, Dept Anim Sci, Hangzhou, Peoples R China [NORA names: China; Asia, East];
- [38] Jiangxi Key Lab Human Aging, Nanchang, Jiangxi, Peoples R China [NORA names: China; Asia, East];
- [39] Nanchang Univ, Human Aging Res Inst, Nanchang, Jiangxi, Peoples R China [NORA names: China; Asia, East];
- [40] UCL, UCL Genet Inst, London, England [NORA names: United Kingdom; Europe, Non-EU; OECD];
- [41] Agr Victoria, AgriBio, Ctr AgriBiosci, Bundoora, Vic, Australia [NORA names: Australia; Oceania; OECD];
- [42] Univ Melbourne, Fac Vet & Agr Sci, Parkville, Vic, Australia [NORA names: Australia; Oceania; OECD];
- [43] Fudan Univ, Greater Bay Area Inst Precis Med, Ctr Intelligent Med Res, Guangzhou, Peoples R China [NORA names: China; Asia, East];
- [44] Nanjing Agr Univ, Inst Swine Sci, Nanjing, Peoples R China [NORA names: China; Asia, East];
- [45] Sichuan Agr Univ, Farm Anim Genet Resources Explorat & Innovat Key, Chengdu, Peoples R China [NORA names: China; Asia, East];
- [46] Guangxi Univ, Coll Anim Sci & Technol, Nanning, Peoples R China [NORA names: China; Asia, East];
- [47] North Carolina State Univ, Dept Anim Sci, Raleigh, NC USA [NORA names: United States; America, North; OECD];
- [48] Sun Yat Sen Univ, Sch Life Sci, State Key Lab Biocontrol, Guangzhou, Peoples R China [NORA names: China; Asia, East];
- [49] Huazhong Agr Univ, Coll Anim Sci & Technol, Wuhan, Peoples R China [NORA names: China; Asia, East];
- [50] Scotlands Rural Coll SRUC, Roslin Inst Bldg, Edinburgh, Midlothian, Scotland [NORA names: United Kingdom; Europe, Non-EU; OECD];
- [51] Scotlands Rural Coll SRUC, Roslin Inst Bldg, Edinburgh, Midlothian, Scotland [NORA names: United Kingdom; Europe, Non-EU; OECD];
- [52] Scotlands Rural Coll SRUC, Roslin Inst Bldg, Edinburgh, Midlothian, Scotland [NORA names: United Kingdom; Europe, Non-EU; OECD];
- [53] Shandong Agr Univ, Coll Anim Sci & Technol, Tai An, Shandong, Peoples R China [NORA names: China; Asia, East];
- [54] Scotlands Rural Coll SRUC, Roslin Inst Bldg, Edinburgh, Midlothian, Scotland [NORA names: United Kingdom; Europe, Non-EU; OECD]
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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.
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