Journal
GENOME RESEARCH
Volume 22, Issue 12, Pages 2368-2375Publisher
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
DOI: 10.1101/gr.134981.111
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Funding
- Louis-Jeantet Foundation
- Swiss National Foundation
- NCCR Frontiers in Genetics
- Wellcome Trust [MuTHER 081917/Z/07/Z, 083270/Z/07/Z]
- NIH [R01 MH090941, HEALTH-F42007-201413]
- Marie Curie FP7-PEOPLE--IEF
- Wellcome Trust [083270/Z/07/Z] Funding Source: Wellcome Trust
- MRC [G0900339] Funding Source: UKRI
- Medical Research Council [G0900339] Funding Source: researchfish
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Human regulatory variation, reported as expression quantitative trait loci (eQTLs), contributes to differences between populations and tissues. The contribution of eQTLs to differences between sexes, however, has not been investigated to date. Here we explore regulatory variation in females and males and demonstrate that 12%-15% of autosomal eQTLs function in a sex-biased manner. We show that genes possessing sex-biased eQTLs are expressed at similar levels across the sexes and highlight cases of genes controlling sexually dimorphic and shared traits that are under the control of distinct regulatory elements in females and males. This study illustrates that sex provides important context that can modify the effects of functional genetic variants.
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