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Cell. 2019 Mar 21;177(1):101-114. doi: 10.1016/j.cell.2019.02.051.

Local Determinants of the Mutational Landscape of the Human Genome.

Author information

1
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac, 10, 08028 Barcelona, Spain; Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain. Electronic address: abel.gonzalez@irbbarcelona.org.
2
National Centre for Biological Sciences, Tata Institute of Fundamental Research, Bangalore 560065, India. Electronic address: sabari@ncbs.res.in.
3
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac, 10, 08028 Barcelona, Spain; Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain. Electronic address: nuria.lopez@irbbarcelona.org.

Abstract

Large-scale chromatin features, such as replication time and accessibility influence the rate of somatic and germline mutations at the megabase scale. This article reviews how local chromatin structures -e.g., DNA wrapped around nucleosomes, transcription factors bound to DNA- affect the mutation rate at a local scale. It dissects how the interaction of some mutagenic agents and/or DNA repair systems with these local structures influence the generation of mutations. We discuss how this local mutation rate variability affects our understanding of the evolution of the genomic sequence, and the study of the evolution of organisms and tumors.

PMID:
30901533
DOI:
10.1016/j.cell.2019.02.051
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