The epigenetic landscape of aneuploidy: constitutional mosaicism leading the way?
The epigenetic landscape of aneuploidy: constitutional mosaicism leading the way?
复制标题
DOI：
10.2217/epi.13.78
复制
发表时间：
2014-02-01
期刊：
影响因子：
3.8
通讯作者：
Davidsson, Josef
中科院分区：
文献类型：
--
作者：
Davidsson, Josef
近几十年来，结构遗传变化在人类疾病中的作用受到了极大的关注，但令人惊讶的是，人们对染色体数目异常知之甚少，尽管自Boveri时代以来，它们已被公认为参与不同的细胞病理生理过程，如癌症和基因组疾病。本文综述了非整倍体的遗传和表观遗传后果的现有知识，特别关注使用嵌合遗传综合征来研究与全染色体增益相关的DNA甲基化足迹和表达效应。最近的进展，在理解有争议的作用，非整倍性作为一个司机或乘客在恶性转化，以及细胞如何响应和调节多余的遗传物质在实验环境中，也进行了详细讨论。
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.