Somatic mutations, genome mosaicism, cancer and aging

被引:98
作者
Vijg, Jan [1 ]
机构
[1] Albert Einstein Coll Med, Dept Genet, New York, NY 10461 USA
关键词
COPY-NUMBER-VARIATION; DETECTABLE CLONAL MOSAICISM; DE-NOVO MUTATIONS; L1; RETROTRANSPOSITION; CHROMOSOMAL MOSAICISM; CHILDHOOD-CANCER; HUMAN BRAIN; DNA-DAMAGE; AGE; DISEASE;
D O I
10.1016/j.gde.2014.04.002
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Genomes are inherently unstable due to the need for DNA sequence variation in the germ line to fuel evolution through natural selection. In somatic tissues mutations accumulate during development and aging, generating genome mosaics. There is little information about the possible causal role of increased somatic mutation loads in late-life disease and aging, with the exception of cancer. Characterizing somatic mutations and their functional consequences in normal tissues remains a formidable challenge due to their low, individual abundance. Here, I will briefly review our current knowledge of somatic mutations in animals and humans in relation to aging, how they arise and lead to genome mosaicism, the technology to study somatic mutations and how they possibly could cause non-clonal disease.
引用
收藏
页码:141 / 149
页数:9
相关论文
共 50 条
[21]   Somatic mtDNA mutations and aging - Facts and fancies [J].
Kukat, Alexandra ;
Trifunovic, Aleksandra .
EXPERIMENTAL GERONTOLOGY, 2009, 44 (1-2) :101-105
[22]   Somatic mutations in neurons during aging and neurodegeneration [J].
Verheijen, Bert M. ;
Vermulst, Marc ;
van Leeuwen, Fred W. .
ACTA NEUROPATHOLOGICA, 2018, 135 (06) :811-826
[23]   Genome-wide detection of somatic mosaicism at short tandem repeats [J].
Sehgal, Aarushi ;
Jam, Helyaneh Ziaei ;
Shen, Andrew ;
Gymrek, Melissa .
BIOINFORMATICS, 2024, 40 (08)
[24]   Somatic mutations in the human brain: implications for psychiatric research [J].
Nishioka, Masaki ;
Bundo, Miki ;
Iwamoto, Kazuya ;
Kato, Tadafumi .
MOLECULAR PSYCHIATRY, 2019, 24 (06) :839-856
[25]   Somatic Mosaicism and Autism Spectrum Disorder [J].
D'Gama, Alissa M. .
GENES, 2021, 12 (11)
[26]   Somatic Mosaicism and Disease [J].
Frank, Steven A. .
CURRENT BIOLOGY, 2014, 24 (12) :R577-R581
[27]   Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms [J].
Lodato, Michael A. ;
Walsh, Christopher A. .
HUMAN MOLECULAR GENETICS, 2019, 28 (R2) :R197-R206
[28]   Somatic mosaicism of sex chromosomes in the blood and brain [J].
Graham, Emma J. ;
Vermeulen, Michael ;
Vardarajan, Badri ;
Bennett, David ;
De Jager, Phil ;
Pearse, Richard V., II ;
Young-Pearse, Tracy L. ;
Mostafavi, Sara .
BRAIN RESEARCH, 2019, 1721
[29]   Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network [J].
McConnell, Michael J. ;
Moran, John V. ;
Abyzov, Alexej ;
Akbarian, Schahram ;
Bae, Taejeong ;
Cortes-Ciriano, Isidro ;
Erwin, Jennifer A. ;
Fasching, Liana ;
Flasch, Diane A. ;
Freed, Donald ;
Ganz, Javier ;
Jaffe, Andrew E. ;
Kwan, Kenneth Y. ;
Kwon, Minseok ;
Lodato, Michael A. ;
Mills, Ryan E. ;
Paquola, Apua C. M. ;
Rodin, Rachel E. ;
Rosenbluh, Chaggai ;
Sestan, Nenad ;
Sherman, Maxwell A. ;
Shin, Joo Heon ;
Song, Saera ;
Straub, Richard E. ;
Thorpe, Jeremy ;
Weinberger, Daniel R. ;
Urban, Alexander E. ;
Zhou, Bo ;
Gage, Fred H. ;
Lehner, Thomas ;
Senthil, Geetha ;
Walsh, Christopher A. ;
Chess, Andrew ;
Courchesne, Eric ;
Gleeson, Joseph G. ;
Kidd, Jeffrey M. ;
Park, Peter J. ;
Pevsner, Jonathan ;
Vaccarino, Flora M. .
SCIENCE, 2017, 356 (6336)
[30]   Challenges of proving a causal role of somatic mutations in the aging process [J].
Franco, Irene ;
Revechon, Gwladys ;
Eriksson, Maria .
AGING CELL, 2022, 21 (05)