3D Chromatin Organization Involving MEIS1 Factor in the cis-Regulatory Landscape of GJB2.

ABSTRACT: The human genome is covered by 8% of candidate cis-regulatory elements. The identification of distal acting regulatory elements and an understanding of their action are crucial to determining their key role in gene expression. Disruptions of such regulatory elements and/or chromatin conformation are likely to play a critical role in human genetic diseases. Non-syndromic hearing loss (i.e., DFNB1) is mostly due to GJB2 (Gap Junction Beta 2) variations and DFNB1 large deletions. Although several GJB2 cis-regulatory elements (CREs) have been described, GJB2 gene regulation remains not well understood. We investigated the endogenous effect of these CREs with CRISPR (clustered regularly interspaced short palindromic repeats) disruptions and obser

SUBMITTER: Le Nabec A 

PROVIDER: S-EPMC9266880 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature