TitleLocal Determinants of the Mutational Landscape of the Human Genome.
Publication TypeJournal Article
Year of Publication2019
AuthorsGonzalez-Perez A, Sabarinathan R, Lopez-Bigas N
JournalCell
Volume177
Issue1
Pagination101-114
Date Published2019 Mar 21
ISSN1097-4172
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.

DOI10.1016/j.cell.2019.02.051
Alternate JournalCell
PubMed ID30901533