A compendium of genetic regulatory effects across pig tissues

The PigGTEx Consortium

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37 Citations (Scopus)

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.

Original languageEnglish
JournalNature Genetics
Volume56
Issue1
Pages (from-to)112-123
Number of pages12
ISSN1061-4036
DOIs
Publication statusPublished - Jan 2024

Keywords

  • Animals
  • Gene Expression Profiling
  • Gene Expression Regulation
  • Genotype
  • Humans
  • Phenotype
  • Sequence Analysis, RNA
  • Swine/genetics

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