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Intragenomic variability and extended sequence patterns in the mutational signature of ultraviolet light

Journal article
Authors Markus Lindberg
Martin Boström
Kerryn Elliott
Erik Larsson
Published in Proceedings of the National Academy of Sciences of the United States of America
Volume 116
Issue 41
Pages 20411-20417
ISSN 0027-8424
Publication year 2019
Published at Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology
Pages 20411-20417
Language en
Links dx.doi.org/10.1073/pnas.1909021116
Keywords mutational signature, UV, pyrimidine dimer, DNA damage, cancer genomics, pyrimidine dimer formation, tert promoter mutations, somatic mutations, cytosine methylation, cancer, recurrent, hotspots, repair, mechanisms
Subject categories Cancer and Oncology

Abstract

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.

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