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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8217497/
https://www.ncbi.nlm.nih.gov/pubmed/34155213
http://dx.doi.org/10.1038/s41467-021-23980-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8217497/
https://www.ncbi.nlm.nih.gov/pubmed/34155213
http://dx.doi.org/10.1038/s41467-021-23980-6

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