Oliva, MeritxellMuñoz-Aguirre, ManuelKim-Hellmuth, SarahWucher, ValentinGewirtz, Ariel DHCotter, Daniel J.Parsana, PrincyKasela, SilvaBalliu, BrunildaViñuela, AnaCastel, Stephane E.Mohammadi, PejmanAguet, FrançoisZou, YuxinKhramtsova, Ekaterina A.Skol, Andrew D.Garrido-Martín, DiegoReverter Comes, FerranBrown, AndrewEvans, PatrickGamazon, Eric R.Payne, AnthonyBonazzola, RodrigoBarbeira, Alvaro N.Hamel, Andrew R.Martinez-Perez, AngelSoria, José ManuelConsortium, GTExPierce, Brandon LStephens, MatthewEskin, EleazarDermitzakis, Emmanouil T.Segrè, Ayellet VKyung Im, HaeEngelhardt, Barbara E.Ardlie, Kristin G .Montgomery, Stephen B.Battle, Alexis J.Lappalainen, TuuliGuigó, Roderic2023-04-252023-04-252020-09-110036-8075https://hdl.handle.net/2445/197187Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex differences in gene expression and in the genetic regulation of gene expression across 44 human tissue sources surveyed by the Genotype-Tissue Expression project (GTEx, v8 release). We demonstrate that sex influences gene expression levels and cellular composition of tissue samples across the human body. A total of 37% of all genes exhibit sex-biased expression in at least one tissue. We identify cis expression quantitative trait loci (eQTLs) with sex-differentiated effects and characterize their cellular origin. By integrating sex-biased eQTLs with genome-wide association study data, we identify 58 gene-trait associations that are driven by genetic regulation of gene expression in a single sex. These findings provide an extensive characterization of sex differences in the human transcriptome and its genetic regulation.14 p.application/pdfeng(c) Oliva, Meritxell et al., 2020Cromosomes sexualsExpressió gènicaGenoma humàSex chromosomesGene expressionHuman genomeinfo:eu-repo/semantics/article7050272023-04-25info:eu-repo/semantics/openAccess