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Impact of the X chromosome and sex on regulatory variation
Kimberly R Kukurba,
Kevin S. Smith,
David A. Knowles,
James B. Potash,
Myrna M. Weissman,
Douglas F. Levinson,
Stephen B. Montgomery
Posted 07 Aug 2015
bioRxiv DOI: 10.1101/024117 (published DOI: 10.1101/gr.197897.115)
Posted 07 Aug 2015
The X chromosome, with its unique mode of inheritance, contributes to differences between the sexes at a molecular level, including sex-specific gene expression and sex-specific impact of genetic variation. We have conducted an analysis of the impact of both sex and the X chromosome on patterns of gene expression identified through transcriptome sequencing of whole blood from 922 individuals. We identified that genes on the X chromosome are more likely to have sex-specific expression compared to the autosomal genes. Furthermore, we identified a depletion of regulatory variants on the X chromosome, especially among genes under high selective constraint. In contrast, we discovered an enrichment of sex-specific regulatory variants on the X chromosome. To resolve the molecular mechanisms underlying such effects, we generated and connected sex-specific chromatin accessibility to sex-specific expression and regulatory variation. As sex-specific regulatory variants can inform sex differences in genetic disease prevalence, we have integrated our data with genome-wide association study data for multiple immune traits and to identify traits with significant sex biases. Together, our study provides genome-wide insight into how the X chromosome and sex shape human gene regulation and disease.
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