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Mosaicism in health and disease — clones picking up speed

Forsberg, Lars A.; Gisselsson, David LU and Dumanski, Jan P. (2017) In Nature Reviews. Genetics 18. p.128-142
Abstract

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 on such variation, emerging studies show that it is common: individuals are complex mosaics of genetically distinct cells, to such an extent that no two somatic cells are likely to have the exact same genome. Although most types of mutation can be involved in post-zygotic variation, structural genetic variants are likely to leave the largest genomic footprint. Somatic variation has diverse physiological roles and pathological consequences, particularly when acquired variants influence the clonal trajectories of the affected cells. Post-zygotic... (More)

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 on such variation, emerging studies show that it is common: individuals are complex mosaics of genetically distinct cells, to such an extent that no two somatic cells are likely to have the exact same genome. Although most types of mutation can be involved in post-zygotic variation, structural genetic variants are likely to leave the largest genomic footprint. Somatic variation has diverse physiological roles and pathological consequences, particularly when acquired variants influence the clonal trajectories of the affected cells. Post-zygotic variation is an important confounder in medical genetic testing and a promising avenue for research: future studies could involve analyses of sorted and single cells from multiple tissue types to fully explore its potential.

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publication status
published
subject
in
Nature Reviews. Genetics
volume
18
pages
128 - 142
publisher
Nature Publishing Group
external identifiers
  • scopus:85003875577
  • wos:000392906800010
ISSN
1471-0056
DOI
10.1038/nrg.2016.145
language
English
LU publication?
yes
id
1b1d38bf-339a-4103-ac88-89921112a0a1
date added to LUP
2016-12-23 08:19:10
date last changed
2018-05-06 04:29:15
@article{1b1d38bf-339a-4103-ac88-89921112a0a1,
  abstract     = {<p>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 on such variation, emerging studies show that it is common: individuals are complex mosaics of genetically distinct cells, to such an extent that no two somatic cells are likely to have the exact same genome. Although most types of mutation can be involved in post-zygotic variation, structural genetic variants are likely to leave the largest genomic footprint. Somatic variation has diverse physiological roles and pathological consequences, particularly when acquired variants influence the clonal trajectories of the affected cells. Post-zygotic variation is an important confounder in medical genetic testing and a promising avenue for research: future studies could involve analyses of sorted and single cells from multiple tissue types to fully explore its potential.</p>},
  author       = {Forsberg, Lars A. and Gisselsson, David and Dumanski, Jan P.},
  issn         = {1471-0056},
  language     = {eng},
  pages        = {128--142},
  publisher    = {Nature Publishing Group},
  series       = {Nature Reviews. Genetics},
  title        = {Mosaicism in health and disease — clones picking up speed},
  url          = {http://dx.doi.org/10.1038/nrg.2016.145},
  volume       = {18},
  year         = {2017},
}