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STaRRRT: a table of short tandem repeats in regulatory regions of the human genome
BACKGROUND: Tandem repeats (TRs) are unstable regions commonly found within genomes that have consequences for evolution and disease. In humans, polymorphic TRs are known to cause neurodegenerative and neuromuscular disorders as well as being associated with complex diseases such as diabetes and can...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3840602/ https://www.ncbi.nlm.nih.gov/pubmed/24228761 http://dx.doi.org/10.1186/1471-2164-14-795 |
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author | Bolton, Katherine A Ross, Jason P Grice, Desma M Bowden, Nikola A Holliday, Elizabeth G Avery-Kiejda, Kelly A Scott, Rodney J |
author_facet | Bolton, Katherine A Ross, Jason P Grice, Desma M Bowden, Nikola A Holliday, Elizabeth G Avery-Kiejda, Kelly A Scott, Rodney J |
author_sort | Bolton, Katherine A |
collection | PubMed |
description | BACKGROUND: Tandem repeats (TRs) are unstable regions commonly found within genomes that have consequences for evolution and disease. In humans, polymorphic TRs are known to cause neurodegenerative and neuromuscular disorders as well as being associated with complex diseases such as diabetes and cancer. If present in upstream regulatory regions, TRs can modify chromatin structure and affect transcription; resulting in altered gene expression and protein abundance. The most common TRs are short tandem repeats (STRs), or microsatellites. Promoter located STRs are considerably more polymorphic than coding region STRs. As such, they may be a common driver of phenotypic variation. To study STRs located in regulatory regions, we have performed genome-wide analysis to identify all STRs present in a region that is 2 kilobases upstream and 1 kilobase downstream of the transcription start sites of genes. RESULTS: The Short Tandem Repeats in Regulatory Regions Table, STaRRRT, contains the results of the genome-wide analysis, outlining the characteristics of 5,264 STRs present in the upstream regulatory region of 4,441 human genes. Gene set enrichment analysis has revealed significant enrichment for STRs in cellular, transcriptional and neurological system gene promoters and genes important in ion and calcium homeostasis. The set of enriched terms has broad similarity to that seen in coding regions, suggesting that regulatory region STRs are subject to similar evolutionary pressures as STRs in coding regions and may, like coding region STRs, have an important role in controlling gene expression. CONCLUSIONS: STaRRRT is a readily-searchable resource for investigating potentially polymorphic STRs that could influence the expression of any gene of interest. The processes and genes enriched for regulatory region STRs provide potential novel targets for diagnosing and treating disease, and support a role for these STRs in the evolution of the human genome. |
format | Online Article Text |
id | pubmed-3840602 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-38406022013-11-27 STaRRRT: a table of short tandem repeats in regulatory regions of the human genome Bolton, Katherine A Ross, Jason P Grice, Desma M Bowden, Nikola A Holliday, Elizabeth G Avery-Kiejda, Kelly A Scott, Rodney J BMC Genomics Research Article BACKGROUND: Tandem repeats (TRs) are unstable regions commonly found within genomes that have consequences for evolution and disease. In humans, polymorphic TRs are known to cause neurodegenerative and neuromuscular disorders as well as being associated with complex diseases such as diabetes and cancer. If present in upstream regulatory regions, TRs can modify chromatin structure and affect transcription; resulting in altered gene expression and protein abundance. The most common TRs are short tandem repeats (STRs), or microsatellites. Promoter located STRs are considerably more polymorphic than coding region STRs. As such, they may be a common driver of phenotypic variation. To study STRs located in regulatory regions, we have performed genome-wide analysis to identify all STRs present in a region that is 2 kilobases upstream and 1 kilobase downstream of the transcription start sites of genes. RESULTS: The Short Tandem Repeats in Regulatory Regions Table, STaRRRT, contains the results of the genome-wide analysis, outlining the characteristics of 5,264 STRs present in the upstream regulatory region of 4,441 human genes. Gene set enrichment analysis has revealed significant enrichment for STRs in cellular, transcriptional and neurological system gene promoters and genes important in ion and calcium homeostasis. The set of enriched terms has broad similarity to that seen in coding regions, suggesting that regulatory region STRs are subject to similar evolutionary pressures as STRs in coding regions and may, like coding region STRs, have an important role in controlling gene expression. CONCLUSIONS: STaRRRT is a readily-searchable resource for investigating potentially polymorphic STRs that could influence the expression of any gene of interest. The processes and genes enriched for regulatory region STRs provide potential novel targets for diagnosing and treating disease, and support a role for these STRs in the evolution of the human genome. BioMed Central 2013-11-15 /pmc/articles/PMC3840602/ /pubmed/24228761 http://dx.doi.org/10.1186/1471-2164-14-795 Text en Copyright © 2013 Bolton et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Bolton, Katherine A Ross, Jason P Grice, Desma M Bowden, Nikola A Holliday, Elizabeth G Avery-Kiejda, Kelly A Scott, Rodney J STaRRRT: a table of short tandem repeats in regulatory regions of the human genome |
title | STaRRRT: a table of short tandem repeats in regulatory regions of the human genome |
title_full | STaRRRT: a table of short tandem repeats in regulatory regions of the human genome |
title_fullStr | STaRRRT: a table of short tandem repeats in regulatory regions of the human genome |
title_full_unstemmed | STaRRRT: a table of short tandem repeats in regulatory regions of the human genome |
title_short | STaRRRT: a table of short tandem repeats in regulatory regions of the human genome |
title_sort | starrrt: a table of short tandem repeats in regulatory regions of the human genome |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3840602/ https://www.ncbi.nlm.nih.gov/pubmed/24228761 http://dx.doi.org/10.1186/1471-2164-14-795 |
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