人类3'-5' DNA核酸外切酶TREX1的C末端截短会导致伴有脑白质营养不良的常染色体显性视网膜血管病变。
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
作者信息
Richards Anna, van den Maagdenberg Arn M J M, Jen Joanna C, Kavanagh David, Bertram Paula, Spitzer Dirk, Liszewski M Kathryn, Barilla-Labarca Maria-Louise, Terwindt Gisela M, Kasai Yumi, McLellan Mike, Grand Mark Gilbert, Vanmolkot Kaate R J, de Vries Boukje, Wan Jijun, Kane Michael J, Mamsa Hafsa, Schäfer Ruth, Stam Anine H, Haan Joost, de Jong Paulus T V M, Storimans Caroline W, van Schooneveld Mary J, Oosterhuis Jendo A, Gschwendter Andreas, Dichgans Martin, Kotschet Katya E, Hodgkinson Suzanne, Hardy Todd A, Delatycki Martin B, Hajj-Ali Rula A, Kothari Parul H, Nelson Stanley F, Frants Rune R, Baloh Robert W, Ferrari Michel D, Atkinson John P
机构信息
Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
出版信息
Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29.
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In nine families, we identified heterozygous C-terminal frameshift mutations in TREX1, which encodes a 3'-5' exonuclease. These truncated proteins retain exonuclease activity but lose normal perinuclear localization. These data have implications for the maintenance of vascular integrity in the degenerative cerebral microangiopathies leading to stroke and dementias.
伴有脑白质营养不良的常染色体显性遗传性视网膜血管病变是一种中年起病的微血管内皮病变。在9个家族中，我们在编码3'-5'核酸外切酶的TREX1基因中鉴定出杂合的C端移码突变。这些截短的蛋白质保留了核酸外切酶活性，但失去了正常的核周定位。这些数据对于导致中风和痴呆的退行性脑微血管病变中血管完整性的维持具有重要意义。
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