Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding

Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding

Functional variants have been proposed to alter transcription factor binding. Here, the authors provide direct evidence that functional variants within the TBC1D4 gene, encoding an NFκB binding site, can alter transcription factor binding, and use CRISPR-Cas9 to reveal localization of the transcript...

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Main Authors: Andrew D. Johnston, Claudia A. Simões-Pires, Taylor V. Thompson, Masako Suzuki, John M. Greally
Format: Article
Language:English
Published: Nature Publishing Group 2019-08-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-019-11412-5
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spelling doaj-88d29a982eee4fd9b508af61899db2952021-05-11T11:50:51ZengNature Publishing GroupNature Communications2041-17232019-08-0110111610.1038/s41467-019-11412-5Functional genetic variants can mediate their regulatory effects through alteration of transcription factor bindingAndrew D. Johnston0Claudia A. Simões-Pires1Taylor V. Thompson2Masako Suzuki3John M. Greally4Center for Epigenomics and Department of Genetics (Division of Genomics), Albert Einstein College of MedicineCenter for Epigenomics and Department of Genetics (Division of Genomics), Albert Einstein College of MedicineCenter for Epigenomics and Department of Genetics (Division of Genomics), Albert Einstein College of MedicineCenter for Epigenomics and Department of Genetics (Division of Genomics), Albert Einstein College of MedicineCenter for Epigenomics and Department of Genetics (Division of Genomics), Albert Einstein College of MedicineFunctional variants have been proposed to alter transcription factor binding. Here, the authors provide direct evidence that functional variants within the TBC1D4 gene, encoding an NFκB binding site, can alter transcription factor binding, and use CRISPR-Cas9 to reveal localization of the transcription factor to be the regulator of chromatin accessibility and p65 binding and ultimately TBC1D4 expression.https://doi.org/10.1038/s41467-019-11412-5
collection DOAJ
language English
format Article
sources DOAJ
author Andrew D. Johnston
Claudia A. Simões-Pires
Taylor V. Thompson
Masako Suzuki
John M. Greally
spellingShingle Andrew D. Johnston
Claudia A. Simões-Pires
Taylor V. Thompson
Masako Suzuki
John M. Greally
Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding
Nature Communications
author_facet Andrew D. Johnston
Claudia A. Simões-Pires
Taylor V. Thompson
Masako Suzuki
John M. Greally
author_sort Andrew D. Johnston
title Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding
title_short Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding
title_full Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding
title_fullStr Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding
title_full_unstemmed Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding
title_sort functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding
publisher Nature Publishing Group
series Nature Communications
issn 2041-1723
publishDate 2019-08-01
description Functional variants have been proposed to alter transcription factor binding. Here, the authors provide direct evidence that functional variants within the TBC1D4 gene, encoding an NFκB binding site, can alter transcription factor binding, and use CRISPR-Cas9 to reveal localization of the transcription factor to be the regulator of chromatin accessibility and p65 binding and ultimately TBC1D4 expression.
url https://doi.org/10.1038/s41467-019-11412-5
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