Derivation of consensus inactivation status for X-linked genes from genome-wide studies

Abstract

Sex differences can have effects on disease predisposition and sensitivity to certain therapies, leading funding agencies including the NIH in the USA and Canadian Institutes of Health Research (CIHR) in Canada, to include the consideration of sex differences in their criteria for funding. The sex difference in expression of most X-linked genes is minimized by X-chromosome inactivation (XCI); however, some genes are known to escape from XCI leading to male-female expression differences, particularly in humans [4]. Analysis of the Genotype-Tissue Expression (GTEx) pilot project data shows that most of the 29 X chromosome genes with a female bias escape from XCI, while the eight X chromosome genes showing a male expression bias were predominantly PAR located [12].