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如何纠正染色体三体。

How to correct chromosomal trisomy.

机构信息

Departments of Pathology and Medicine, University of Washington, Seattle WA98115, USA.

出版信息

Cell Res. 2013 Dec;23(12):1345-6. doi: 10.1038/cr.2013.135. Epub 2013 Oct 1.

Abstract

Trisomy 21 in human causes Down syndrome, a common chromosome disorder with devastating phenotypes ranging from early death in utero to intellectual disability together with an array of physical anomalies and late-onset diseases. In a recent study published in Nature, Jeanne Lawrence and her colleagues restored normal gene expression in trisomy 21 cells by silencing the extra chromosome using XIST, the non-coding RNA that normally silences one X chromosome in females; this improved growth and differentiation of neural cells, which offers hope that some deleterious effects of the trisomy could be reversed to improve this incurable disease.

摘要

21 三体综合征会导致唐氏综合征,这是一种常见的染色体疾病,其表型严重,从宫内死亡到智力障碍,伴有一系列身体异常和迟发性疾病。在最近发表在《自然》杂志上的一项研究中,Jeanne Lawrence 和她的同事们通过使用 XIST(一种通常在女性中沉默一条 X 染色体的非编码 RNA)沉默多余的染色体,在 21 三体综合征细胞中恢复了正常的基因表达;这改善了神经细胞的生长和分化,为逆转这种无法治愈疾病的一些有害影响带来了希望。

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引用本文的文献

本文引用的文献

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Translating dosage compensation to trisomy 21.
Nature. 2013 Aug 15;500(7462):296-300. doi: 10.1038/nature12394. Epub 2013 Jul 17.
2
The Xist lncRNA exploits three-dimensional genome architecture to spread across the X chromosome.
Science. 2013 Aug 16;341(6147):1237973. doi: 10.1126/science.1237973. Epub 2013 Jul 4.
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Trisomy correction in Down syndrome induced pluripotent stem cells.
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