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Chromatin structure is distinct between coding and non-coding single nucleotide polymorphisms
BACKGROUND: Previous studies suggested that nucleosomes are enriched with single nucleotide polymorphisms (SNPs) in humans and that the occurrence of mutations is closely associated with CpG dinucleotides. We aimed to determine if the chromatin organization is genomic locus specific around SNPs, and...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4193957/ https://www.ncbi.nlm.nih.gov/pubmed/25282079 http://dx.doi.org/10.1186/1471-2199-15-22 |
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author | Liu, Hongde Zhai, Jinchen Luo, Kun Liu, Lingjie |
author_facet | Liu, Hongde Zhai, Jinchen Luo, Kun Liu, Lingjie |
author_sort | Liu, Hongde |
collection | PubMed |
description | BACKGROUND: Previous studies suggested that nucleosomes are enriched with single nucleotide polymorphisms (SNPs) in humans and that the occurrence of mutations is closely associated with CpG dinucleotides. We aimed to determine if the chromatin organization is genomic locus specific around SNPs, and if newly occurring mutations are associated with SNPs. RESULTS: Here, we classified SNPs according their loci and investigated chromatin organization in both CD4(+) T cell and lymphoblastoid cell in humans. We calculated the SNP frequency around somatic mutations. The results indicated that nucleosome occupancy is different around SNPs sites in different genomic loci. Coding SNPs are mainly enriched at nucleosomes and associated with repressed histone modifications (HMs) and DNA methylation. Contrastingly, intron SNPs occur in nucleosome-depleted regions and lack HMs. Interestingly, risk-associated non-coding SNPs are also enriched at nucleosomes with HMs but associated with low GC-content and low DNA methylation level. The base-transversion allele frequency is significantly low in coding-synonymous SNPs (P < 10(-11)). Another finding is that at the -1 and +1 positions relative to the somatic mutation sites, the SNP frequency was significantly higher (P < 3.2 × 10(-5)). CONCLUSIONS: The results suggested chromatin structure is different around coding SNPs and non-coding SNPs. New mutations tend to occur at the -1 and +1 position immediately near the SNPs. |
format | Online Article Text |
id | pubmed-4193957 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-41939572014-10-12 Chromatin structure is distinct between coding and non-coding single nucleotide polymorphisms Liu, Hongde Zhai, Jinchen Luo, Kun Liu, Lingjie BMC Mol Biol Research Article BACKGROUND: Previous studies suggested that nucleosomes are enriched with single nucleotide polymorphisms (SNPs) in humans and that the occurrence of mutations is closely associated with CpG dinucleotides. We aimed to determine if the chromatin organization is genomic locus specific around SNPs, and if newly occurring mutations are associated with SNPs. RESULTS: Here, we classified SNPs according their loci and investigated chromatin organization in both CD4(+) T cell and lymphoblastoid cell in humans. We calculated the SNP frequency around somatic mutations. The results indicated that nucleosome occupancy is different around SNPs sites in different genomic loci. Coding SNPs are mainly enriched at nucleosomes and associated with repressed histone modifications (HMs) and DNA methylation. Contrastingly, intron SNPs occur in nucleosome-depleted regions and lack HMs. Interestingly, risk-associated non-coding SNPs are also enriched at nucleosomes with HMs but associated with low GC-content and low DNA methylation level. The base-transversion allele frequency is significantly low in coding-synonymous SNPs (P < 10(-11)). Another finding is that at the -1 and +1 positions relative to the somatic mutation sites, the SNP frequency was significantly higher (P < 3.2 × 10(-5)). CONCLUSIONS: The results suggested chromatin structure is different around coding SNPs and non-coding SNPs. New mutations tend to occur at the -1 and +1 position immediately near the SNPs. BioMed Central 2014-10-05 /pmc/articles/PMC4193957/ /pubmed/25282079 http://dx.doi.org/10.1186/1471-2199-15-22 Text en Copyright © 2014 Liu 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 credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Article Liu, Hongde Zhai, Jinchen Luo, Kun Liu, Lingjie Chromatin structure is distinct between coding and non-coding single nucleotide polymorphisms |
title | Chromatin structure is distinct between coding and non-coding single nucleotide polymorphisms |
title_full | Chromatin structure is distinct between coding and non-coding single nucleotide polymorphisms |
title_fullStr | Chromatin structure is distinct between coding and non-coding single nucleotide polymorphisms |
title_full_unstemmed | Chromatin structure is distinct between coding and non-coding single nucleotide polymorphisms |
title_short | Chromatin structure is distinct between coding and non-coding single nucleotide polymorphisms |
title_sort | chromatin structure is distinct between coding and non-coding single nucleotide polymorphisms |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4193957/ https://www.ncbi.nlm.nih.gov/pubmed/25282079 http://dx.doi.org/10.1186/1471-2199-15-22 |
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