信使核糖核酸去腺苷酸化与端粒疾病
mRNA deadenylation and telomere disease.
作者信息
Mason Philip J, Bessler Monica
出版信息
J Clin Invest. 2015 May;125(5):1796-8. doi: 10.1172/JCI81506. Epub 2015 Apr 20.
Abstract
Dyskeratosis congenita (DC) is an inherited BM failure disorder that is associated with mutations in genes involved with telomere function and maintenance; however, the genetic cause of many instances of DC remains uncharacterized. In this issue of the JCI, Tummala and colleagues identify mutations in the gene encoding the poly(A)-specific ribonuclease (PARN) in individuals with a severe form of DC in three different families. PARN deficiency resulted in decreased expression of genes required for telomere maintenance and an aberrant DNA damage response, including increased levels of p53. Together, the results of this study support PARN as a DC-associated gene and suggest a potential link between p53 and telomere shortening.
摘要
先天性角化不良（DC）是一种遗传性骨髓衰竭疾病，与端粒功能和维持相关基因的突变有关；然而，许多DC病例的遗传原因仍未明确。在本期《临床研究杂志》中，图马拉及其同事在三个不同家族中，发现了患有严重形式DC的个体中，编码聚腺苷酸特异性核糖核酸酶（PARN）的基因突变。PARN缺乏导致端粒维持所需基因的表达降低以及异常的DNA损伤反应，包括p53水平升高。这项研究的结果共同支持PARN作为与DC相关的基因，并提示p53与端粒缩短之间可能存在联系。
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本文引用的文献
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