Human active X-specific DNA methylation events showing stability across time and tissues

J.E. Joo, B. Novakovic, Mark Cruickshank, L.W. Doyle, J.M. Craig, R. Saffery

Research output: Contribution to journalArticlepeer-review

17 Citations (Scopus)


The phenomenon of X chromosome inactivation in female mammals is well characterised and remains the archetypal example of dosage compensation via monoallelic expression. The temporal series of events that culminates in inactive X-specific gene silencing by DNA methylation has revealed a ‘patchwork’ of gene inactivation along the chromosome, with approximately 15% of genes escaping. Such genes are therefore potentially subject to sex-specific imbalance between males and females. Aside from XIST, the non-coding RNA on the X chromosome destined to be inactivated, very little is known about the extent of loci that may be selectively silenced on the active X chromosome (Xa). Using longitudinal array-based DNA methylation profiling of two human tissues, we have identified specific and widespread active X-specific DNA methylation showing stability over time and across tissues of disparate origin. Our panel of X-chromosome loci subject to methylation on Xa reflects a potentially novel mechanism for controlling female-specific X inactivation and sex-specific dimorphisms in humans. Further work is needed to investigate these phenomena.
Original languageEnglish
Pages (from-to)1376–1381
JournalEuropean Journal of Human Genetics
Early online date9 Apr 2014
Publication statusPublished - Dec 2014


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