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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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. |
format | Online Article Text |
id | pubmed-8073710 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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