New roles for the major human 3′-5′ exonuclease TREX1 in human disease
New roles for the major human 3′-5′ exonuclease TREX1 in human disease
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DOI：
10.4161/cc.7.12.6162
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发表时间：
2008-06-15
期刊：
影响因子：
4.3
通讯作者：
Atkinson, John P.
中科院分区：
文献类型：
--
作者：
Kavanagh, David;Spitzer, Dirk;Atkinson, John P.
Aicardi-Goutieres综合征（AGS）、系统性红斑狼疮（SLE）、家族性冻疮狼疮（FCL）和视网膜血管病和脑白质营养不良（RVCL）{一个新术语，包括三种独立描述的具有共同病因的病症-脑视网膜血管病（CRV）、遗传性血管性视网膜病（HVR）和遗传性内皮病、视网膜病和肾病（HERNS）}-以前被认为是不同的实体。然而，最近的遗传分析表明，这些疾病中的每一种都定位于染色体3 p21，并且可以由TREX 1（主要的人类3'-5'核酸外切酶）中的突变引起。在这篇综述中，我们讨论了TREX 1的推定功能与这些疾病的临床、遗传和功能特征的关系。
Aicardi-Goutieres syndrome (AGS), Systemic Lupus Erythematosus (SLE), Familial Chilblain Lupus (FCL) and Retinal Vasculopathy and Cerebral Leukodystrophy (RVCL) {a new term encompassing three independently described conditions with a common etiology - Cerebroretinal Vasculopathy (CRV), Hereditary Vascular Retinopathy (HVR) and Hereditary Endotheliopathy, Retinopathy and Nephropathy (HERNS)}- have previously been regarded as distinct entities. However, recent genetic analysis has demonstrated that each of these diseases maps to chromosome 3p21 and can be caused by mutations in TREX1, the major human 3' - 5' exonuclease. In this review, we discuss the putative functions of TREX1 in relationship to the clinical, genetic and functional characteristics of each of these conditions.