Nature Genetics · 2022 · 334 citations · 58 references
Life SciencesBioinformaticsGeneticsGene ExpressionGenomicsTranscriptomicsAnimal GeneticsAnimal GenomicsGenetic Improvement Of LivestockRegulatory GenomicsVariant InterpretationNoncoding Regulatory VariantsRegulatory Variant AnalysisRegulatory Variant PrioritizationTissue-specific Expression ProfilingTissue-specific Regulatory Elements
Characterization of genetic regulatory variants acting on livestock gene expression is essential for interpreting the molecular mechanisms underlying traits of economic value and for increasing the rate of genetic gain through artificial selection. Here we build a Cattle Genotype–Tissue Expression atlas (CattleGTEx) as part of the pilot phase of the Farm animal GTEx (FarmGTEx) project for the research community based on 7,180 publicly available RNA-sequencing (RNA-seq) samples. We describe the transcriptomic landscape of more than 100 tissues/cell types and report hundreds of thousands of genetic associations with gene expression and alternative splicing for 23 distinct tissues. We evaluate the tissue-sharing patterns of these genetic regulatory effects, and functionally annotate them using multiomics data. Finally, we link gene expression in different tissues to 43 economically important traits using both transcriptome-wide association and colocalization analyses to decipher the molecular regulatory mechanisms underpinning such agronomic traits in cattle. The cattle Genotype–Tissue Expression atlas of expression and splicing QTLs is generated from 7,180 uniformly re-processed RNA-seq samples. Integration with GWAS identifies candidate genes and variants associated with economically important traits.
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