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- W2042840751 abstract "A dataset of SNPs and indels from the human genome has now been compared to nucleosome occupancy profiles. Indels tend to be less represented around regions occupied by nucleosomes, whereas SNPs are enriched around nucleosomes in bulk but depleted relative to covalently modified histones, giving insight into genome organization and its possible link to variation. DNA sequence variations in individual genomes give rise to different phenotypes within the same species. One mechanism in this process is the alteration of chromatin structure due to sequence variation that influences gene regulation. We composed a high-confidence collection of human single-nucleotide polymorphisms and indels based on analysis of publicly available sequencing data and investigated whether the DNA loci associated with stable nucleosome positions are protected against mutations. We addressed how the sequence variation reflects the occupancy profiles of nucleosomes bearing different epigenetic modifications on genome scale. We found that indels are depleted around nucleosome positions of all considered types, whereas single-nucleotide polymorphisms are enriched around the positions of bulk nucleosomes but depleted around the positions of epigenetically modified nucleosomes. These findings indicate an increased level of conservation for the sequences associated with epigenetically modified nucleosomes, highlighting complex organization of the human chromatin." @default.
- W2042840751 created "2016-06-24" @default.
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- W2042840751 date "2011-03-13" @default.
- W2042840751 modified "2023-10-13" @default.
- W2042840751 title "Impact of chromatin structure on sequence variability in the human genome" @default.
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- W2042840751 doi "https://doi.org/10.1038/nsmb.2012" @default.
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