bioRxiv preprint doi: https://doi.org/10.1101/076950; this version posted March 7, 2017. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. X-chromosome inactivation and its implications for human disease Running title: XCI and disease implications Joost Gribnau, Ph.D.1,3 and Tahsin Stefan Barakat, M.D., Ph.D.2,3 1Department of Developmental Biology, Erasmus MC – University Medical Center, Rotterdam, The Netherlands 2MRC Center for Regenerative Medicine, Institute for Stem Cell Research, School of Biological Sciences, University of Edinburgh, Edinburgh, United Kingdom 3correspondence: Tahsin Stefan Barakat, M.D., Ph.D. or Joost Gribnau, Ph.D. Email:
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[email protected] Address for correspondence: MRC Centre for Regenerative Medicine SCRM Building The University of Edinburgh Edinburgh Bioquarter 5 Little France Drive Edinburgh EH16 4UU Tel: +44 (0)131 651 9500 Fax: +44 (0)131 651 9501 1 bioRxiv preprint doi: https://doi.org/10.1101/076950; this version posted March 7, 2017. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. ABSTRACT In humans and other mammals, female cells carry two X-chromosomes, whereas male cells carry a single X and Y-chromosome. To achieve an equal expression level of X-linked genes in both sexes, a dosage compensation mechanism evolved, which results in transcriptional silencing of one X-chromosome in females.