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染色体非整倍体的反式作用表观遗传效应：来自唐氏综合征和小鼠模型的经验教训。

Trans-acting epigenetic effects of chromosomal aneuploidies: lessons from Down syndrome and mouse models.

作者信息

Do Catherine, Xing Zhuo, Yu Y Eugene, Tycko Benjamin

机构信息

Institute for Cancer Genetics, Columbia University, New York, NY 10032, USA.

The Children's Guild Foundation Down Syndrome Research Program, Genetics Program & Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA.

出版信息

Epigenomics. 2017 Feb;9(2):189-207. doi: 10.2217/epi-2016-0138. Epub 2016 Dec 2.

DOI:10.2217/epi-2016-0138
PMID:27911079
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5549717/
Abstract

An important line of postgenomic research seeks to understand how genetic factors can influence epigenetic patterning. Here we review epigenetic effects of chromosomal aneuploidies, focusing on findings in Down syndrome (DS, trisomy 21). Recent work in human DS and mouse models has shown that the extra chromosome 21 acts in trans to produce epigenetic changes, including differential CpG methylation (DS-DM), in specific sets of downstream target genes, mostly on other chromosomes. Mechanistic hypotheses emerging from these data include roles of chromosome 21-linked methylation pathway genes (DNMT3L and others) and transcription factor genes (RUNX1, OLIG2, GABPA, ERG and ETS2) in shaping the patterns of DS-DM. The findings may have broader implications for trans-acting epigenetic effects of chromosomal and subchromosomal aneuploidies in other human developmental and neuropsychiatric disorders, and in cancers.

摘要

后基因组研究的一个重要方向是试图了解遗传因素如何影响表观遗传模式。在此，我们综述染色体非整倍性的表观遗传效应，重点关注唐氏综合征（DS，21三体）的研究结果。近期关于人类唐氏综合征和小鼠模型的研究表明，额外的21号染色体通过反式作用产生表观遗传变化，包括特定下游靶基因集（大多在其他染色体上）的差异CpG甲基化（DS-DM）。从这些数据中得出的机制假说包括21号染色体相关的甲基化途径基因（DNMT3L等）和转录因子基因（RUNX1、OLIG2、GABPA、ERG和ETS2）在塑造DS-DM模式中的作用。这些发现可能对其他人类发育和神经精神疾病以及癌症中染色体和亚染色体非整倍性的反式作用表观遗传效应具有更广泛的意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04ea/5549717/be36f0aa62ef/epi-09-189-g5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04ea/5549717/51013caec525/epi-09-189-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04ea/5549717/b9be55e32da0/epi-09-189-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04ea/5549717/260bf9f462de/epi-09-189-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04ea/5549717/21d734a13fae/epi-09-189-g4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04ea/5549717/be36f0aa62ef/epi-09-189-g5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04ea/5549717/51013caec525/epi-09-189-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04ea/5549717/b9be55e32da0/epi-09-189-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04ea/5549717/260bf9f462de/epi-09-189-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04ea/5549717/21d734a13fae/epi-09-189-g4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04ea/5549717/be36f0aa62ef/epi-09-189-g5.jpg

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PLoS One. 2016 Aug 4;11(8):e0160319. doi: 10.1371/journal.pone.0160319. eCollection 2016.
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Epigenetic dysregulation in the developing Down syndrome cortex.
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Cell Prolif. 2024 Aug;57(8):e13639. doi: 10.1111/cpr.13639. Epub 2024 Mar 29.
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