Sex-biased genetic effects on gene regulation in humans

Genome Research - Tập 22 Số 12 - Trang 2368-2375 - 2012
Antigone S. Dimas1,2,3, Alexandra C. Nica1, Stephen B. Montgomery1, Barbara E. Stranger4,5,6, Towfique Raj4,5,6, Alfonso Buil1, Thomas Giger1, Tuuli Lappalainen1, María Gutiérrez‐Arcelus1, Mark I. McCarthy2,7,8, Emmanouil T. Dermitzakis1
11Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland
22Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom
33Biomedical Sciences Research Center Al. Fleming, 16672 Vari, Greece
44Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA
55Harvard Medical School, Boston, Massachusetts 02115, USA
66Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
77Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford OX3 7LJ, United Kingdom
88Oxford NIHR Biomedical Research Centre, Churchill Hospital, Headington, Oxford OX3 7LJ, United Kingdom

Tóm tắt

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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Genome Research

Tập 22 Số 12

2368-2375

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