Somatic mutagenesis in mammals and its implications for human disease and aging

Lei Zhang, Jan Vijg

Research output: Contribution to journalReview article

14 Citations (Scopus)

Abstract

DNA mutations as a consequence of errors during DNA damage repair, replication, or mitosis are the substrate for evolution. In multicellular organisms, mutations can occur in the germline and also in somatic tissues, where they are associated with cancer and other chronic diseases and possibly with aging. Recent advances in high-throughput sequencing have made it relatively easy to study germline de novo mutations, but in somatic cells, the vast majority of mutations are low-abundant and can be detected only in clonal lineages, such as tumors, or single cells. Here we review recent results on somatic mutations in normal human and animal tissues with a focus on their possible functional consequences.

Original languageEnglish (US)
Pages (from-to)397-419
Number of pages23
JournalAnnual Review of Genetics
Volume52
DOIs
StatePublished - Nov 23 2018

Fingerprint

Mutagenesis
Mammals
Mutation
Mitosis
DNA Repair
DNA Damage
Neoplasms
Chronic Disease
DNA

Keywords

  • aging
  • cancer
  • single-cell DNA sequencing
  • somatic mutation
  • tissue specificity

ASJC Scopus subject areas

  • Genetics

Cite this

Somatic mutagenesis in mammals and its implications for human disease and aging. / Zhang, Lei; Vijg, Jan.

In: Annual Review of Genetics, Vol. 52, 23.11.2018, p. 397-419.

Research output: Contribution to journalReview article

@article{7634e9574cbc4117a46da1f9c84234bb,
title = "Somatic mutagenesis in mammals and its implications for human disease and aging",
abstract = "DNA mutations as a consequence of errors during DNA damage repair, replication, or mitosis are the substrate for evolution. In multicellular organisms, mutations can occur in the germline and also in somatic tissues, where they are associated with cancer and other chronic diseases and possibly with aging. Recent advances in high-throughput sequencing have made it relatively easy to study germline de novo mutations, but in somatic cells, the vast majority of mutations are low-abundant and can be detected only in clonal lineages, such as tumors, or single cells. Here we review recent results on somatic mutations in normal human and animal tissues with a focus on their possible functional consequences.",
keywords = "aging, cancer, single-cell DNA sequencing, somatic mutation, tissue specificity",
author = "Lei Zhang and Jan Vijg",
year = "2018",
month = "11",
day = "23",
doi = "10.1146/annurev-genet-120417-031501",
language = "English (US)",
volume = "52",
pages = "397--419",
journal = "Annual Review of Genetics",
issn = "0066-4197",
publisher = "Annual Reviews Inc.",

}

TY - JOUR

T1 - Somatic mutagenesis in mammals and its implications for human disease and aging

AU - Zhang, Lei

AU - Vijg, Jan

PY - 2018/11/23

Y1 - 2018/11/23

N2 - DNA mutations as a consequence of errors during DNA damage repair, replication, or mitosis are the substrate for evolution. In multicellular organisms, mutations can occur in the germline and also in somatic tissues, where they are associated with cancer and other chronic diseases and possibly with aging. Recent advances in high-throughput sequencing have made it relatively easy to study germline de novo mutations, but in somatic cells, the vast majority of mutations are low-abundant and can be detected only in clonal lineages, such as tumors, or single cells. Here we review recent results on somatic mutations in normal human and animal tissues with a focus on their possible functional consequences.

AB - DNA mutations as a consequence of errors during DNA damage repair, replication, or mitosis are the substrate for evolution. In multicellular organisms, mutations can occur in the germline and also in somatic tissues, where they are associated with cancer and other chronic diseases and possibly with aging. Recent advances in high-throughput sequencing have made it relatively easy to study germline de novo mutations, but in somatic cells, the vast majority of mutations are low-abundant and can be detected only in clonal lineages, such as tumors, or single cells. Here we review recent results on somatic mutations in normal human and animal tissues with a focus on their possible functional consequences.

KW - aging

KW - cancer

KW - single-cell DNA sequencing

KW - somatic mutation

KW - tissue specificity

UR - http://www.scopus.com/inward/record.url?scp=85057215784&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85057215784&partnerID=8YFLogxK

U2 - 10.1146/annurev-genet-120417-031501

DO - 10.1146/annurev-genet-120417-031501

M3 - Review article

C2 - 30212236

AN - SCOPUS:85057215784

VL - 52

SP - 397

EP - 419

JO - Annual Review of Genetics

JF - Annual Review of Genetics

SN - 0066-4197

ER -