Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis.


Journal

Cell
ISSN: 1097-4172
Titre abrégé: Cell
Pays: United States
ID NLM: 0413066

Informations de publication

Date de publication:
07 03 2019
Historique:
received: 05 10 2017
revised: 19 09 2018
accepted: 27 01 2019
entrez: 9 3 2019
pubmed: 9 3 2019
medline: 7 1 2020
Statut: ppublish

Résumé

Multiple signatures of somatic mutations have been identified in cancer genomes. Exome sequences of 1,001 human cancer cell lines and 577 xenografts revealed most common mutational signatures, indicating past activity of the underlying processes, usually in appropriate cancer types. To investigate ongoing patterns of mutational-signature generation, cell lines were cultured for extended periods and subsequently DNA sequenced. Signatures of discontinued exposures, including tobacco smoke and ultraviolet light, were not generated in vitro. Signatures of normal and defective DNA repair and replication continued to be generated at roughly stable mutation rates. Signatures of APOBEC cytidine deaminase DNA-editing exhibited substantial fluctuations in mutation rate over time with episodic bursts of mutations. The initiating factors for the bursts are unclear, although retrotransposon mobilization may contribute. The examined cell lines constitute a resource of live experimental models of mutational processes, which potentially retain patterns of activity and regulation operative in primary human cancers.

Identifiants

pubmed: 30849372
pii: S0092-8674(19)30161-8
doi: 10.1016/j.cell.2019.02.012
pmc: PMC6424819
pii:
doi:

Substances chimiques

Retroelements 0
DNA 9007-49-2
APOBEC Deaminases EC 3.5.4.5

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1282-1294.e20

Subventions

Organisme : Cancer Research UK
ID : C98/A24032
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 098051
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 206194
Pays : United Kingdom
Organisme : Department of Health
Pays : United Kingdom

Commentaires et corrections

Type : CommentIn

Informations de copyright

Crown Copyright © 2019. Published by Elsevier Inc. All rights reserved.

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Auteurs

Mia Petljak (M)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Ludmil B Alexandrov (LB)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK; Department of Cellular and Molecular Medicine and Department of Bioengineering, Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.

Jonathan S Brammeld (JS)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Stacey Price (S)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

David C Wedge (DC)

Oxford Big Data Institute, Old Road Campus, Oxford OX3 7LF, UK; Oxford NIHR Biomedical Research Centre, Oxford, OX4 2PG, UK.

Sebastian Grossmann (S)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Kevin J Dawson (KJ)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Young Seok Ju (YS)

Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon 305-701, Republic of Korea.

Francesco Iorio (F)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK; European Molecular Biology Laboratory - European Bioinformatics Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Jose M C Tubio (JMC)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK; Mobile Genomes and Disease, Molecular Medicine and Chronic Diseases Centre (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela 15706, Spain; Department of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela 15706, Spain; The Biomedical Research Centre (CINBIO), Universidade de Vigo, Vigo 36310, Spain.

Ching Chiek Koh (CC)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Ilias Georgakopoulos-Soares (I)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Bernardo Rodríguez-Martín (B)

Mobile Genomes and Disease, Molecular Medicine and Chronic Diseases Centre (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela 15706, Spain; Department of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela 15706, Spain; The Biomedical Research Centre (CINBIO), Universidade de Vigo, Vigo 36310, Spain.

Burçak Otlu (B)

Department of Cellular and Molecular Medicine and Department of Bioengineering, Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.

Sarah O'Meara (S)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Adam P Butler (AP)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Andrew Menzies (A)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Shriram G Bhosle (SG)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Keiran Raine (K)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

David R Jones (DR)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Jon W Teague (JW)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Kathryn Beal (K)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Calli Latimer (C)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Laura O'Neill (L)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Jorge Zamora (J)

Mobile Genomes and Disease, Molecular Medicine and Chronic Diseases Centre (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela 15706, Spain; Department of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela 15706, Spain; The Biomedical Research Centre (CINBIO), Universidade de Vigo, Vigo 36310, Spain.

Elizabeth Anderson (E)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Nikita Patel (N)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Mark Maddison (M)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Bee Ling Ng (BL)

Cytometry Core Facility, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Jennifer Graham (J)

Cytometry Core Facility, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Mathew J Garnett (MJ)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Ultan McDermott (U)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Serena Nik-Zainal (S)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK; Department of Medical Genetics, The Clinical School, University of Cambridge, Cambridge, CB2 0QQ, UK.

Peter J Campbell (PJ)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

Michael R Stratton (MR)

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK. Electronic address: mrs@sanger.ac.uk.

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