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http://hdl.handle.net/2445/197187
Title: | The impact of sex on gene expression across human tissues |
Author: | 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 |
Keywords: | Cromosomes sexuals Expressió gènica Genoma humà Sex chromosomes Gene expression Human genome |
Issue Date: | 11-Sep-2020 |
Publisher: | American Association for the Advancement of Science |
Abstract: | 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. |
Note: | Versió postprint del document publicat a: https://doi.org/10.1126/science.aba3066 |
It is part of: | Science, 2020, vol. 369, num. 6509 |
URI: | http://hdl.handle.net/2445/197187 |
Related resource: | https://doi.org/10.1126/science.aba3066 |
ISSN: | 0036-8075 |
Appears in Collections: | Articles publicats en revistes (Genètica, Microbiologia i Estadística) |
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