Marco Gabarier, Georgios Stamoulis, Xavier Blanc, Emilie Falconnet, Pascale Ribaux, Christelle Borel, Federico Santoni, and Stylianos E. Antonarakis
X-chromosome inactivation (XCI) is a female dosage compensation mechanism where one of the two X chromosomes is randomly silenced. However, some genes on the inactive X chromosome
and outside the pseudoautosomal regions escape from XCI and are expressed from both alleles (escapees). By means of single-cell transcriptome we show that XCI is variable among individuals and from cells from the same individual. We discovered that XCI is indeed a cellular phenotype and that the expression of escapees is regulated by cell-cycle phases and by the expression of XIST.
Additionally, in this context, we identified a list of undescribed escapee genes, and we validate many already suggested escapee genes with a direct measurement on single cells.