Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts.

ABSTRACT: X-chromosome inactivation (XCI) provides a dosage compensation mechanism where, in each female cell, 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). We investigated XCI at single-cell resolution combining deep single-cell RNA sequencing with whole-genome sequencing to examine allelic-specific expression in 935 primary fibroblast and 48 lymphoblastoid single cells from five female individuals. In this framework we integrated an original method to identify and exclude doublets of cells. In fibroblast cells, we have identified 55 genes as escapees including five undescribed escapee genes. Moreover, we observed that all genes exhibit a vari

SUBMITTER: Garieri M 

PROVIDER: S-EPMC6304968 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature