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  • 标题:Intragenomic variability and extended sequence patterns in the mutational signature of ultraviolet light
  • 本地全文:下载
  • 作者:Filiz Fatma ÇOLAKOĞLU ; Tekin ÇOLAKOĞLU ; Ramiro Ferreira de Freitas
  • 期刊名称:Proceedings of the National Academy of Sciences
  • 印刷版ISSN:0027-8424
  • 电子版ISSN:1091-6490
  • 出版年度:2019
  • 卷号:116
  • 期号:41
  • 页码:20411-20417
  • DOI:10.1073/pnas.1909021116
  • 出版社:The National Academy of Sciences of the United States of America
  • 摘要:Mutational signatures can reveal properties of underlying mutational processes and are important when assessing signals of selection in cancer. Here, we describe the sequence characteristics of mutations induced by ultraviolet (UV) light, a major mutagen in several human cancers, in terms of extended (longer than trinucleotide) patterns as well as variability of the signature across chromatin states. Promoter regions display a distinct UV signature with reduced TCG > TTG transitions, and genome-wide mapping of UVB-induced DNA photoproducts (pyrimidine dimers) showed that this may be explained by decreased damage formation at hypomethylated promoter CpG sites. Further, an extended signature model encompassing additional information from longer contextual patterns improves modeling of UV mutations, which may enhance discrimination between drivers and passenger events. Our study presents a refined picture of the UV signature and underscores that the characteristics of a single mutational process may vary across the genome.
  • 关键词:mutational signature ; UV ; pyrimidine dimer ; DNA damage ; cancer genomics
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