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

Autor: 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
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/s41467-021-23980-6
Popis: 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.
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