Research Article

The impact of sex on gene expression across human tissues

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Science  11 Sep 2020:
Vol. 369, Issue 6509, eaba3066
DOI: 10.1126/science.aba3066

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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