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.
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Portfolio
2021-06-01
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Series: | Nature Communications |
Online Access: | https://doi.org/10.1038/s41467-021-23980-6 |