Somatic mutation load and spectra: A record of DNA damage and repair in healthy human cells

Environmental and Molecular Mutagenesis
Natalie Saini, Dmitry A Gordenin

Abstract

Somatic genome instability is a hallmark of cancer genomes and has been linked to aging and a variety of other pathologies. Large-scale cancer genome and exome sequencing have revealed that mutation load and spectra in cancers can be influenced by environmental exposures, the anatomical site of exposures, and tissue type. There is now an abundance of data favoring the hypothesis that a substantial portion of the mutations in cancers originate prior to carcinogenesis in stem cells of the healthy individual. Rapid advances in sequencing of noncancer cells from healthy humans have shown that their mutation loads and spectra resemble cancer data. Similar to cancer genomes, mutation profiles of healthy cells show marked intra-individual variation, thus providing a metric of the various factors-environmental and endogenous-involved in mutagenesis in these individuals. This review focuses on the current methodologies to measure mutation loads and to determine mutation signatures for evaluating the environmental and endogenous sources of DNA damage in human somatic cells. We anticipate that in future, such large-scale studies aimed at exploring the landscapes of somatic mutations across different cell types in healthy people would prov...Continue Reading

References

Dec 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·R W HartA D Woodhead
May 7, 1993·Science·L A AaltonenS R Hamilton
Jul 19, 2000·Proceedings of the National Academy of Sciences of the United States of America·M E DolléJ Vijg
May 29, 2001·Nature Immunology·I B RogozinT A Kunkel
Mar 19, 2002·Frontiers in Bioscience : a Journal and Virtual Library·James E Cleaver, Eileen Crowley
Jun 5, 2002·Mechanisms of Ageing and Development·Jan Vijg, Martijn E T Dollé
Nov 8, 2002·Genome Research·Martijn E T Dollé, Jan Vijg
Mar 20, 2003·Mutation Research·Robert P Erickson
May 23, 2003·Cold Spring Harbor Symposia on Quantitative Biology·T Lindahl, D E Barnes
Sep 17, 2005·Cancer Research·David J AratenLucio Luzzatto
Dec 7, 2007·Chemical Research in Toxicology·Stephen S Hecht
Feb 29, 2008·Annual Review of Immunology·Jonathan U PeledMatthew D Scharff
Apr 28, 2009·Nature Medicine·Evelyne VannesteJoris R Vermeesch
Oct 9, 2009·The New England Journal of Medicine·Jan H J Hoeijmakers
Jan 19, 2010·Proceedings of the National Academy of Sciences of the United States of America·Michael Lynch
Apr 20, 2010·Mutation Research·Robert P Erickson
Jun 1, 2010·Advances in Immunology·Robert W Maul, Patricia J Gearhart
Nov 13, 2010·Nucleic Acids Research·Paul C Blainey, Stephen R Quake
Jan 1, 2008·CSH Protocols·Nona ArnesonSusan Done
Mar 15, 2011·Nature·Nicholas NavinMichael Wigler
May 19, 2011·Proceedings of the National Academy of Sciences of the United States of America·Isaac KindeBert Vogelstein
Sep 29, 2011·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Siobhán Q GreggLaura J Niedernhofer
Nov 15, 2011·Mechanisms of Ageing and Development·Scott R KennedyAlan J Herr
Nov 17, 2011·Nucleic Acids Research·Michael GundryJan Vijg
May 15, 2012·Bioinformatics·Christopher T SaundersR Keira Cheetham
May 25, 2012·Nature·Michael F BergerLevi A Garraway
Aug 3, 2012·Proceedings of the National Academy of Sciences of the United States of America·Michael W SchmittLawrence A Loeb
Nov 28, 2012·American Journal of Human Genetics·Amnon KorenSteven A McCarroll
Jan 25, 2013·Proceedings of the National Academy of Sciences of the United States of America·Cristian TomasettiGiovanni Parmigiani
Feb 12, 2013·Nature Biotechnology·Kristian CibulskisGad Getz
Mar 9, 2013·Nucleic Acids Research·Yuichi ShiraishiSatoru Miyano
Apr 27, 2013·Bioinformatics·Nancy F HansenJames C Mullikin
Jul 16, 2013·Nature Genetics·Steven A RobertsDmitry A Gordenin

❮ Previous
Next ❯

Citations

Mar 7, 2020·Nucleic Acids Research·Natalie SainiDmitry A Gordenin
Feb 26, 2020·Nature Reviews. Molecular Cell Biology·Madalena Tarsounas, Patrick Sung
Jun 21, 2020·Scientific Reports·Richard M CawthonLynn B Jorde
Jan 29, 2020·Experimental Gerontology·Tatiana Dandolini SacconAugusto Schneider
Jul 10, 2021·Signal Transduction and Targeted Therapy·Ruixue Huang, Ping-Kun Zhou

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Nature Reviews. Genetics
Ian R WatsonLynda Chin
Journal of Environmental Science and Health. Part C, Environmental Carcinogenesis & Ecotoxicology Reviews
Baitang NingWilliam H Tolleson
Pigment Cell & Melanoma Research
Ken Dutton-Regester, Nicholas K Hayward
© 2022 Meta ULC. All rights reserved