Journal
GENOMICS
Volume 98, Issue 5, Pages 320-326Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ygeno.2011.06.009
Keywords
X chromosome inactivation; Gene expression; Expression Quantitative Trait Locus; Gender
Funding
- government of Rheinland-Pfalz [AZ 961-386261/733]
- Johannes Gutenberg-University of Mainz
- PHILIPS Medical Systems
- National Genome Network NGFNplus [A3 01GS0833, 01GS0831]
- Federal Ministry of Education and Research, Germany [BMBF 01KU0908A]
- Agence Nationale de la Recherche, France [ANR 09 GENO 106 01]
- Fondation pour la Recherche Medicale
- Region Ile-de-France
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In humans, the fraction of X-linked genes with higher expression in females has been estimated to be 5% from microarray studies, a proportion lower than the 25% of genes thought to escape X inactivation. We analyzed 715 X-linked transcripts in circulating monocytes from 1,467 subjects and found an excess of female-biased transcripts on the X compared to autosomes (9.4% vs 5.5%, p<2 x 10(-5)). Among the genes not previously known to escape inactivation, the most significant one was EFHC2 whose 20% of variability was explained by sex. We also investigated cis expression quantitative trait loci (eQTLs) by analyzing 15,703 X-linked SNPs. The frequency and magnitude of X-linked cis eQTLs were quite similar in males and females. Few genes exhibited a stronger genetic effect in females than in males (ARSD, DCX, POLA1 and ITM2A). These genes would deserve further investigation since they may contribute to sex pathophysiological differences. (C) 2011 Elsevier Inc. All rights reserved.
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