The impact of sex on gene expression across human tissues

Many 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 source...

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Detalles Bibliográficos
Autores: Oliva, Meritxell, Muñoz-Aguirre, Manuel, Kim-Hellmuth, Sarah, Wucher, Valentin, Gewirtz, Ariel DH, Cotter, Daniel J., Parsana, Princy, Kasela, Silva, Balliu, Brunilda, Viñuela, Ana, Castel, Stephane E., Mohammadi, Pejman, Aguet, François, Zou, Yuxin, Khramtsova, Ekaterina A., Skol, Andrew D., Garrido-Martín, Diego, Reverter Comes, Ferran, Brown, Andrew, Evans, Patrick, Gamazon, Eric R., Payne, Anthony, Bonazzola, Rodrigo, Barbeira, Alvaro N., Hamel, Andrew R., Martinez-Perez, Angel, Soria, José Manuel, Consortium, GTEx, Pierce, Brandon L, Stephens, Matthew, Eskin, Eleazar, Dermitzakis, Emmanouil T., Segrè, Ayellet V., Kyung Im, Hae, Engelhardt, Barbara E., Ardlie, Kristin G ., Montgomery, Stephen B., Battle, Alexis J., Lappalainen, Tuuli, Guigó, Roderic
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2020
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/197187
Acceso en línea:https://hdl.handle.net/2445/197187
Access Level:acceso abierto
Palabra clave:Cromosomes sexuals
Expressió gènica
Genoma humà
Sex chromosomes
Gene expression
Human genome
Descripción
Sumario:Many 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.

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