Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain context.

ABSTRACT: Over 20% of human X-linked genes escape from X-chromosome inactivation (XCI), and are important contributors to sex differences in gene expression. Candidate factors involved in escape have been identified through enrichment analyses and include both regional as well as promoter-proximal elements; however, functional testing is limited. Using both in vivo and in vitro mouse models, we refine a region of just 2.6 kb of the human escape gene KDM5C as able to drive escape from XCI. Transgenes of mouse Kdm5c escape XCI; however, human KDM5C is one of three escape genes in a more than 200 kb region, so we initially tested a BAC transgene containing a full-length version of the gene with a reporter insertion. Contrary to our expectation, this transgene failed to escape from XCI. To understand wh

SUBMITTER: Peeters S 

PROVIDER: S-EPMC12085780 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature