A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker

The role of promoters as potential insulator elements has been largely unexplored in mammals. Here the authors show that a single nucleotide variant in the α-globin locus forms a new promoter and acts as an orientation-dependent enhancer-blocking insulator element.

Bibliographic Details
Main Authors: Yavor K. Bozhilov, Damien J. Downes, Jelena Telenius, A. Marieke Oudelaar, Emmanuel N. Olivier, Joanne C. Mountford, Jim R. Hughes, Richard J. Gibbons, Douglas R. Higgs
Format: Article
Language:English
Published: Nature Portfolio 2021-06-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-021-23980-6