Epigenomics and genotype-phenotype association analyses reveal conserved genetic architecture of complex traits in cattle and human

摘要

Schematic overview of current study. We retrieved human epigenome data, including eight histone marks (H3K4me1, H3K4me2, H3K4me3, H3K9me3, H3K9ac, H3K27ac, H3K27me3, and H3K36me3), from Encode and Roadmap, covering more than 100 tissues and cell types. We transferred the epigenome data from human to cattle using crossMap (1). We then validated the predicted epigenomes using measured ChIP-seq, 723 RNA-seq samples, and 40 whole genome bisulfite sequencing (WGBS) data in cattle (2). We detected relevant tissues for 45 complex traits and selection signature by integrating predicted tissue-specific histone marks with large-scale genome-wide association study (GWAS) in cattle. We further detected relevant tissues for the 58 matched complex traits/diseases in human (3) and explored the shared genetic architecture underlying complex traits between cattle and human (4)