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The epigenetic landscape of aneuploidy: constitutional mosaicism leading the way?

Davidsson, Josef LU (2014) In Epigenomics 6(1). p.45-58
Abstract
The role of structural genetic changes in human disease has received substantial attention in recent decades, but surprisingly little is known about numerical chromosomal abnormalities, even though they have been recognized since the days of Boveri as partaking in different cellular pathophysiological processes such as cancer and genomic disorders. The current knowledge of the genetic and epigenetic consequences of aneuploidy is reviewed herein, with a special focus on using mosaic genetic syndromes to study the DNA methylation footprints and expressional effects associated with whole-chromosomal gains. Recent progress in understanding the debated role of aneuploidy as a driver or passenger in malignant transformation, as well as how the... (More)
The role of structural genetic changes in human disease has received substantial attention in recent decades, but surprisingly little is known about numerical chromosomal abnormalities, even though they have been recognized since the days of Boveri as partaking in different cellular pathophysiological processes such as cancer and genomic disorders. The current knowledge of the genetic and epigenetic consequences of aneuploidy is reviewed herein, with a special focus on using mosaic genetic syndromes to study the DNA methylation footprints and expressional effects associated with whole-chromosomal gains. Recent progress in understanding the debated role of aneuploidy as a driver or passenger in malignant transformation, as well as how the cell responds to and regulates excess genetic material in experimental settings, is also discussed in detail. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Epigenomics
volume
6
issue
1
pages
45 - 58
publisher
Future Medicine Ltd.
external identifiers
  • pmid:24579946
  • wos:000332017100010
  • scopus:84895475825
ISSN
1750-192X
DOI
10.2217/epi.13.78
language
English
LU publication?
yes
id
1033c41a-c811-43fa-9f6c-62a1aafd278c (old id 4387349)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/24579946?dopt=Abstract
date added to LUP
2014-04-01 17:22:20
date last changed
2017-01-01 03:20:08
@article{1033c41a-c811-43fa-9f6c-62a1aafd278c,
  abstract     = {The role of structural genetic changes in human disease has received substantial attention in recent decades, but surprisingly little is known about numerical chromosomal abnormalities, even though they have been recognized since the days of Boveri as partaking in different cellular pathophysiological processes such as cancer and genomic disorders. The current knowledge of the genetic and epigenetic consequences of aneuploidy is reviewed herein, with a special focus on using mosaic genetic syndromes to study the DNA methylation footprints and expressional effects associated with whole-chromosomal gains. Recent progress in understanding the debated role of aneuploidy as a driver or passenger in malignant transformation, as well as how the cell responds to and regulates excess genetic material in experimental settings, is also discussed in detail.},
  author       = {Davidsson, Josef},
  issn         = {1750-192X},
  language     = {eng},
  number       = {1},
  pages        = {45--58},
  publisher    = {Future Medicine Ltd.},
  series       = {Epigenomics},
  title        = {The epigenetic landscape of aneuploidy: constitutional mosaicism leading the way?},
  url          = {http://dx.doi.org/10.2217/epi.13.78},
  volume       = {6},
  year         = {2014},
}