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Genetic Variants in Transcription Factor Binding Sites in Humans: Triggered by Natural Selection and Triggers of Diseases

Variants of transcription factor binding sites (TFBSs) constitute an important part of the human genome. Current evidence demonstrates close links between nucleotides within TFBSs and gene expression. There are multiple pathways through which genomic sequences located in TFBSs regulate gene expressi...

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Autores principales: Tseng, Chia-Chun, Wong, Man-Chun, Liao, Wei-Ting, Chen, Chung-Jen, Lee, Su-Chen, Yen, Jeng-Hsien, Chang, Shun-Jen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8073710/
https://www.ncbi.nlm.nih.gov/pubmed/33919522
http://dx.doi.org/10.3390/ijms22084187
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author Tseng, Chia-Chun
Wong, Man-Chun
Liao, Wei-Ting
Chen, Chung-Jen
Lee, Su-Chen
Yen, Jeng-Hsien
Chang, Shun-Jen
author_facet Tseng, Chia-Chun
Wong, Man-Chun
Liao, Wei-Ting
Chen, Chung-Jen
Lee, Su-Chen
Yen, Jeng-Hsien
Chang, Shun-Jen
author_sort Tseng, Chia-Chun
collection PubMed
description Variants of transcription factor binding sites (TFBSs) constitute an important part of the human genome. Current evidence demonstrates close links between nucleotides within TFBSs and gene expression. There are multiple pathways through which genomic sequences located in TFBSs regulate gene expression, and recent genome-wide association studies have shown the biological significance of TFBS variation in human phenotypes. However, numerous challenges remain in the study of TFBS polymorphisms. This article aims to cover the current state of understanding as regards the genomic features of TFBSs and TFBS variants; the mechanisms through which TFBS variants regulate gene expression; the approaches to studying the effects of nucleotide changes that create or disrupt TFBSs; the challenges faced in studies of TFBS sequence variations; the effects of natural selection on collections of TFBSs; in addition to the insights gained from the study of TFBS alleles related to gout, its associated comorbidities (increased body mass index, chronic kidney disease, diabetes, dyslipidemia, coronary artery disease, ischemic heart disease, hypertension, hyperuricemia, osteoporosis, and prostate cancer), and the treatment responses of patients.
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spelling pubmed-80737102021-04-27 Genetic Variants in Transcription Factor Binding Sites in Humans: Triggered by Natural Selection and Triggers of Diseases Tseng, Chia-Chun Wong, Man-Chun Liao, Wei-Ting Chen, Chung-Jen Lee, Su-Chen Yen, Jeng-Hsien Chang, Shun-Jen Int J Mol Sci Review Variants of transcription factor binding sites (TFBSs) constitute an important part of the human genome. Current evidence demonstrates close links between nucleotides within TFBSs and gene expression. There are multiple pathways through which genomic sequences located in TFBSs regulate gene expression, and recent genome-wide association studies have shown the biological significance of TFBS variation in human phenotypes. However, numerous challenges remain in the study of TFBS polymorphisms. This article aims to cover the current state of understanding as regards the genomic features of TFBSs and TFBS variants; the mechanisms through which TFBS variants regulate gene expression; the approaches to studying the effects of nucleotide changes that create or disrupt TFBSs; the challenges faced in studies of TFBS sequence variations; the effects of natural selection on collections of TFBSs; in addition to the insights gained from the study of TFBS alleles related to gout, its associated comorbidities (increased body mass index, chronic kidney disease, diabetes, dyslipidemia, coronary artery disease, ischemic heart disease, hypertension, hyperuricemia, osteoporosis, and prostate cancer), and the treatment responses of patients. MDPI 2021-04-18 /pmc/articles/PMC8073710/ /pubmed/33919522 http://dx.doi.org/10.3390/ijms22084187 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Tseng, Chia-Chun
Wong, Man-Chun
Liao, Wei-Ting
Chen, Chung-Jen
Lee, Su-Chen
Yen, Jeng-Hsien
Chang, Shun-Jen
Genetic Variants in Transcription Factor Binding Sites in Humans: Triggered by Natural Selection and Triggers of Diseases
title Genetic Variants in Transcription Factor Binding Sites in Humans: Triggered by Natural Selection and Triggers of Diseases
title_full Genetic Variants in Transcription Factor Binding Sites in Humans: Triggered by Natural Selection and Triggers of Diseases
title_fullStr Genetic Variants in Transcription Factor Binding Sites in Humans: Triggered by Natural Selection and Triggers of Diseases
title_full_unstemmed Genetic Variants in Transcription Factor Binding Sites in Humans: Triggered by Natural Selection and Triggers of Diseases
title_short Genetic Variants in Transcription Factor Binding Sites in Humans: Triggered by Natural Selection and Triggers of Diseases
title_sort genetic variants in transcription factor binding sites in humans: triggered by natural selection and triggers of diseases
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8073710/
https://www.ncbi.nlm.nih.gov/pubmed/33919522
http://dx.doi.org/10.3390/ijms22084187
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