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Inversin是在II型肾单位肾痨中发生突变的基因产物,作为Wnt信号通路之间的分子开关发挥作用。

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways.

作者信息

Simons Matias, Gloy Joachim, Ganner Athina, Bullerkotte Axel, Bashkurov Mikhail, Krönig Corinna, Schermer Bernhard, Benzing Thomas, Cabello Olga A, Jenny Andreas, Mlodzik Marek, Polok Bozena, Driever Wolfgang, Obara Tomoko, Walz Gerd

机构信息

Renal Division, University Hospital Freiburg, Hugstetter Strasse 55, 79106 Freiburg, Germany.

出版信息

Nat Genet. 2005 May;37(5):537-43. doi: 10.1038/ng1552. Epub 2005 Apr 24.

Abstract

Cystic renal diseases are caused by mutations of proteins that share a unique subcellular localization: the primary cilium of tubular epithelial cells. Mutations of the ciliary protein inversin cause nephronophthisis type II, an autosomal recessive cystic kidney disease characterized by extensive renal cysts, situs inversus and renal failure. Here we report that inversin acts as a molecular switch between different Wnt signaling cascades. Inversin inhibits the canonical Wnt pathway by targeting cytoplasmic dishevelled (Dsh or Dvl1) for degradation; concomitantly, it is required for convergent extension movements in gastrulating Xenopus laevis embryos and elongation of animal cap explants, both regulated by noncanonical Wnt signaling. In zebrafish, the structurally related switch molecule diversin ameliorates renal cysts caused by the depletion of inversin, implying that an inhibition of canonical Wnt signaling is required for normal renal development. Fluid flow increases inversin levels in ciliated tubular epithelial cells and seems to regulate this crucial switch between Wnt signaling pathways during renal development.

摘要

囊性肾病是由具有独特亚细胞定位的蛋白质突变引起的

肾小管上皮细胞的初级纤毛。纤毛蛋白反转录蛋白的突变会导致II型肾单位肾痨,这是一种常染色体隐性遗传性囊性肾病,其特征为广泛的肾囊肿、内脏反位和肾衰竭。我们在此报告,反转录蛋白在不同的Wnt信号级联反应中充当分子开关。反转录蛋白通过靶向细胞质中的散乱蛋白(Dsh或Dvl1)进行降解来抑制经典Wnt信号通路;与此同时,非洲爪蟾胚胎原肠胚形成过程中的汇聚延伸运动以及动物帽外植体的伸长都需要它,而这两者均由非经典Wnt信号调节。在斑马鱼中,结构相关的开关分子多样蛋白可改善因反转录蛋白缺失引起的肾囊肿,这意味着正常的肾脏发育需要抑制经典Wnt信号。流体流动会增加纤毛肾小管上皮细胞中的反转录蛋白水平,并且似乎在肾脏发育过程中调节Wnt信号通路之间的这一关键转换。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fd3/3733333/dedf8972aa10/nihms416831f1.jpg

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