The impact of sex on gene expression across human tissues. Oliva, M., Muñoz-Aguirre, M., Kim-Hellmuth, S., Wucher, V., Gewirtz, A. D. H., Cotter, D. J., Parsana, P., Kasela, S., Balliu, B., Viñuela, A., Castel, S. E., Mohammadi, P., Aguet, F., Zou, Y., Khramtsova, E. A., Skol, A. D., Garrido-Martín, D., Reverter, F., Brown, A., Evans, P., Gamazon, E. R., Payne, A., Bonazzola, R., Barbeira, A. N., Hamel, A. R., Martinez-Perez, A., Soria, J. M., GTEx Consortium, Pierce, B. L., Stephens, M., Eskin, E., Dermitzakis, E. T., Segrè, A. V., Im, H. K., Engelhardt, B. E., Ardlie, K. G., Montgomery, S. B., Battle, A. J., Lappalainen, T., Guigó, R., & Stranger, B. E. Science, September, 2020. ![The impact of sex on gene expression across human tissues [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper doi abstract bibtex 3 downloads 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.
@article{oliva_impact_2020,
title = {The impact of sex on gene expression across human tissues},
volume = {369},
issn = {0036-8075, 1095-9203},
url = {http://science.sciencemag.org/content/369/6509/eaba3066},
doi = {10.1126/science.aba3066},
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.},
language = {en},
number = {6509},
urldate = {2020-09-10},
journal = {Science},
author = {Oliva, Meritxell and Muñoz-Aguirre, Manuel and Kim-Hellmuth, Sarah and Wucher, Valentin and Gewirtz, Ariel D. H. and Cotter, Daniel J. and Parsana, Princy and Kasela, Silva and Balliu, Brunilda and Viñuela, Ana and Castel, Stephane E. and Mohammadi, Pejman and Aguet, François and Zou, Yuxin and Khramtsova, Ekaterina A. and Skol, Andrew D. and Garrido-Martín, Diego and Reverter, Ferran and Brown, Andrew and Evans, Patrick and Gamazon, Eric R. and Payne, Anthony and Bonazzola, Rodrigo and Barbeira, Alvaro N. and Hamel, Andrew R. and Martinez-Perez, Angel and Soria, José Manuel and {GTEx Consortium} and Pierce, Brandon L. and Stephens, Matthew and Eskin, Eleazar and Dermitzakis, Emmanouil T. and Segrè, Ayellet V. and Im, Hae Kyung and Engelhardt, Barbara E. and Ardlie, Kristin G. and Montgomery, Stephen B. and Battle, Alexis J. and Lappalainen, Tuuli and Guigó, Roderic and Stranger, Barbara E.},
month = sep,
year = {2020},
}
Downloads: 3
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