The ageing genome, clonal mosaicism and chronic disease

MJ Machiela, SJ Chanock - Current opinion in genetics & development, 2017 - Elsevier
Clonal mosaicism arises when a postzygotic mutational event is detectable in
subpopulations of cells as an alternative genotype while not present in the germline …

Somatic mosaicism in the human genome

D Freed, EL Stevens, J Pevsner - Genes, 2014 - mdpi.com
Somatic mosaicism refers to the occurrence of two genetically distinct populations of cells
within an individual, derived from a postzygotic mutation. In contrast to inherited mutations …

Detectable clonal mosaicism and its relationship to aging and cancer

KB Jacobs, M Yeager, W Zhou, S Wacholder, Z Wang… - Nature …, 2012 - nature.com
In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-
wide association studies, we observed large chromosomal abnormalities in a subset of …

Extensive hidden genomic mosaicism revealed in normal tissue

S Vattathil, P Scheet - The American Journal of Human Genetics, 2016 - cell.com
Genomic mosaicism arising from post-zygotic mutation has recently been demonstrated to
occur in normal tissue of individuals ascertained with varied phenotypes, indicating that …

Mosaicism and clinical genetics

NB Spinner, LK Conlin - … Journal of Medical Genetics Part C …, 2014 - Wiley Online Library
With the introduction of increasingly sensitive technologies for mutation detection such as
chromosomal microarrays and next‐generation sequencing, the importance of mosaicism …

The etiology of clonal mosaicism in human aging and disease

S Massaar, MA Sanders - Aging and Cancer, 2023 - Wiley Online Library
Our DNA is consistently assaulted by a variety of intrinsic and extrinsic mutational factors.
Fortunately, DNA repair provides for protective barriers that limit the full manifestation of …

Detectable clonal mosaicism in the human genome

MJ Machiela, SJ Chanock - Seminars in hematology, 2013 - Elsevier
Human genetic mosaicism is the presence of two or more cellular populations with distinct
genotypes in an individual who developed from a single fertilized ovum. While initially …

Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging

SG Vorsanova, YB Yurov, IY Iourov - Molecular Cytogenetics, 2020 - Springer
Background Somatic chromosomal mosaicism is the presence of cell populations differing
with respect to the chromosome complements (eg normal and abnormal) in an individual …

Genomic mosaicism formed by somatic variation in the aging and diseased brain

I Costantino, J Nicodemus, J Chun - Genes, 2021 - mdpi.com
Over the past 20 years, analyses of single brain cell genomes have revealed that the brain is
composed of cells with myriad distinct genomes: the brain is a genomic mosaic, generated …

Mosaicism in health and disease—clones picking up speed

LA Forsberg, D Gisselsson, JP Dumanski - Nature Reviews Genetics, 2017 - nature.com
Post-zygotic variation refers to genetic changes that arise in the soma of an individual and
that are not usually inherited by the next generation. Although there is a paucity of research …