The role of sex in the human transcriptome In humans, the inheritance of the XX or XY set of sex chromosomes is responsible for most individuals developing into adults expressing male or female sex-specific traits. However, the degree to which sex-biased gene expression occurs in tissues, especially those that do not contribute to characteristic sexually dimorphic traits. is unknown. Oliva et al. examined Genotype-Tissue Expression (GTEx) project data and found that 37% of genes in at least one of the 44 tissues studied exhibit a tissue-specific, sex-biased gene expression. They also identified a sex-specific variation in cellular composition across tissues. Overall, the effects of sex on gene expression were small, but they were genome-wide and mostly mediated through transcription factor binding. With sex-biased gene expression associated with loci identified in genome-wide association studies, this study lays the groundwork for identifying the molecular basis of male- and female-based diseases.

 

 

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Citation: BY MERITXELL OLIVA, MANUEL MUÑOZ-AGUIRRE, SARAH KIM-HELLMUTH, VALENTIN WUCHER, ARIEL D. H. GEWIRTZ, DANIEL J. COTTER, PRINCY PARSANA, SILVA KASELA, BRUNILDA BALLIU, ANA VIÑUELA, STEPHANE E. CASTEL, PEJMAN MOHAMMADI, FRANÇOIS AGUET, YUXIN ZOU, EKATERINA A. KHRAMTSOVA, ANDREW D. SKOL, DIEGO GARRIDO-MARTÍN, FERRAN REVERTER, ANDREW BROWN, PATRICK EVANS, ERIC R. GAMAZON, ANTHONY PAYNE, RODRIGO BONAZZOLA, ALVARO N. BARBEIRA, ANDREW R. HAMEL, ANGEL MARTINEZ-PEREZ, JOSÉ MANUEL SORIA, GTEX CONSORTIUM, BRANDON L. PIERCE, MATTHEW STEPHENS, ELEAZAR ESKIN, EMMANOUIL T. DERMITZAKIS, AYELLET V. SEGRÈ, HAE KYUNG IM, BARBARA E. ENGELHARDT, KRISTIN G. ARDLIE, STEPHEN B. MONTGOMERY, ALEXIS J. BATTLE, TUULI LAPPALAINEN, RODERIC GUIGÓ, BARBARA E. STRANGER SCIENCE