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

Many single nucleotide variants (SNVs) associated with human traits and genetic diseases are thought to alter the activity of existing regulatory elements. Some SNVs may also create entirely new regulatory elements which change gene expression, but the mechanism by which they do so is largely unknow...

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Publicado no:Nat Commun
Main Authors: Bozhilov, Yavor K., Downes, Damien J., Telenius, Jelena, Marieke Oudelaar, A., Olivier, Emmanuel N., Mountford, Joanne C., Hughes, Jim R., Gibbons, Richard J., Higgs, Douglas R.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8217497/
https://ncbi.nlm.nih.gov/pubmed/34155213
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-021-23980-6
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