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2020-09-11

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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/197187

The impact of sex on gene expression across human tissues

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https://doi.org/10.1126/science.aba3066

Resum

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.

Matèries

Cromosomes sexuals, Expressió gènica, Genoma humà

Matèries (anglès)

Sex chromosomes, Gene expression, Human genome

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Articles publicats en revistes (Genètica, Microbiologia i Estadística)

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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. The impact of sex on gene expression across human tissues. _Science_. 2020. Vol. 369, núm. 6509. [consulta: 10 de gener de 2026]. ISSN: 0036-8075. [Disponible a: https://hdl.handle.net/2445/197187]

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