Sex-biased genetic effects on gene regulation in humans
- Antigone Dimas1,
- Alexandra Nica2,
- Stephen Montgomery2,
- Barbara Stranger3,
- Towfique Raj3,
- Alfonso Buil4,
- Thomas Giger4,
- Tuuli Lappalainen4,
- Maria Gutierrez-Arcelus4,
- Mark McCarthy5 and
- Emmanouil Dermitzakis6,7
- ↵* Corresponding author; email: emmanouil.dermitzakis{at}unige.ch
Abstract
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.
- Received November 17, 2011.
- Accepted August 13, 2012.
- © 2012, Published by Cold Spring Harbor Laboratory Press
This manuscript is Open Access.
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