craig-humanactivex-2014.pdf (1.37 MB)
Human active X-specific DNA methylation events showing stability across time and tissues
journal contribution
posted on 2014-12-01, 00:00 authored by Jihoon Eric Joo, Boris Novakovic, Mark Cruickshank, Lex W Doyle, Jeffrey CraigJeffrey Craig, Richard SafferyThe 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.
History
Journal
European journal of human geneticsVolume
22Issue
12Pagination
1376 - 1381Publisher
Nature Publishing GroupLocation
London, Eng.Publisher DOI
Link to full text
ISSN
1018-4813eISSN
1476-5438Language
engPublication classification
C1.1 Refereed article in a scholarly journalCopyright notice
2014, Macmillan Publishers LimitedUsage metrics
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Keywords
Chromosomes, Human, XDNA MethylationDatabases, GeneticDosage Compensation, GeneticFemaleGene Expression RegulationGene SilencingGenetic LociHumansMaleRNA, UntranslatedX Chromosome InactivationScience & TechnologyLife Sciences & BiomedicineBiochemistry & Molecular BiologyGenetics & HeredityCHROMOSOME INACTIVATIONGENE-EXPRESSIONSOMATIC MUTATIONSREVEALSMOUSEBIRTHTWINSAGEMECHANISMSEVOLUTIONGenetics
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