TY - JOUR
T1 - Somatic mosaicism in healthy human tissues
AU - De, Subhajyoti
N1 - Funding Information:
SD thanks Franziska Michor, Elizabeth Murchison, Frank McCaughan and the anonymous reviewers for insightful discussions and critical comments. SD is a recipient of Human Frontier Science Program Long-term Fellowship and also a Fellow at King's College, Cambridge, UK. Phenotypic heterogeneity Variation in an observable characteristic or trait of an organism. Epigenetic marks Chemical modifications on DNA and DNA-binding histone proteins, which are associated with a change in heritable traits without a change in the underlying DNA sequence. Epigenome The overall epigenetic state of a cell. Genomic integrity The ability to maintain the normal structure of the chromosomes in a cell. Reversion mosaicism Somatic mosaicism caused by the in vivo reversion of inherited mutation, such that the wild type allele is restored. Aneuploidy Presence of an abnormal number of chromosomes (i.e. the loss or gain of whole chromosomes in mutated cells). Breakage–fusion–bridge cycle DNA damage that occurs during consecutive cell cycles and involves the formation of dicentric chromosomes during the anaphase of each of those cell cycles.
PY - 2011/6
Y1 - 2011/6
N2 - From the fertilization of an egg until the death of an individual, somatic cells can accumulate genetic changes, such that cells from different tissues or even within the same tissue differ genetically. The presence of multiple cell clones with distinct genotypes in the same individual is referred to as 'somatic mosaicism'. Many endogenous factors such as mobile elements, DNA polymerase slippage, DNA double-strand break, inefficient DNA repair, unbalanced chromosomal segregation and some exogenous factors such as nicotine and UV exposure can contribute to the generation of somatic mutations, thereby leading to somatic mosaicism. Such changes can potentially affect the epigenetic patterns and levels of gene expression, and ultimately the phenotypes of cells. Although recent studies suggest that somatic mosaicism is widespread during normal development and aging, its implications for heightened disease risks are incompletely understood. Here, I discuss the origins, prevalence and implications of somatic mosaicism in healthy human tissues.
AB - From the fertilization of an egg until the death of an individual, somatic cells can accumulate genetic changes, such that cells from different tissues or even within the same tissue differ genetically. The presence of multiple cell clones with distinct genotypes in the same individual is referred to as 'somatic mosaicism'. Many endogenous factors such as mobile elements, DNA polymerase slippage, DNA double-strand break, inefficient DNA repair, unbalanced chromosomal segregation and some exogenous factors such as nicotine and UV exposure can contribute to the generation of somatic mutations, thereby leading to somatic mosaicism. Such changes can potentially affect the epigenetic patterns and levels of gene expression, and ultimately the phenotypes of cells. Although recent studies suggest that somatic mosaicism is widespread during normal development and aging, its implications for heightened disease risks are incompletely understood. Here, I discuss the origins, prevalence and implications of somatic mosaicism in healthy human tissues.
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U2 - 10.1016/j.tig.2011.03.002
DO - 10.1016/j.tig.2011.03.002
M3 - Review article
C2 - 21496937
AN - SCOPUS:79956329337
SN - 0168-9525
VL - 27
SP - 217
EP - 223
JO - Trends in Genetics
JF - Trends in Genetics
IS - 6
ER -