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肾发育不全和可变肾积水,一种影响小鼠odd-skipped相关1基因的新突变,导致肾脏发育和肾积水出现可变缺陷。

Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis.

作者信息

Davisson Muriel T, Cook Susan A, Akeson Ellen C, Liu Don, Heffner Caleb, Gudis Polyxeni, Fairfield Heather, Murray Stephen A

机构信息

The Jackson Laboratory, Bar Harbor, Maine.

The Jackson Laboratory, Bar Harbor, Maine

出版信息

Am J Physiol Renal Physiol. 2015 Jun 15;308(12):F1335-42. doi: 10.1152/ajprenal.00410.2014. Epub 2015 Apr 1.

Abstract

Many genes, including odd-skipped related 1 (Osr1), are involved in regulation of mammalian kidney development. We describe here a new recessive mutation (kidney adysplasia and variable hydronephrosis, kavh) in the mouse that leads to downregulation of Osr1 transcript, causing several kidney defects: agenesis, hypoplasia, and hydronephrosis with variable age of onset. The mutation is closely associated with a reciprocal translocation, T(12;17)4Rk, whose Chromosome 12 breakpoint is upstream from Osr1. The kavh/kavh mutant provides a model to study kidney development and test therapies for hydronephrosis.

摘要

包括odd-skipped相关基因1(Osr1)在内的许多基因参与哺乳动物肾脏发育的调控。我们在此描述小鼠中的一种新的隐性突变(肾发育不全和可变肾积水,kavh),该突变导致Osr1转录本下调,从而引起多种肾脏缺陷:肾缺如、发育不全以及不同发病年龄的肾积水。该突变与一个相互易位T(12;17)4Rk紧密相关,其12号染色体断点位于Osr1上游。kavh/kavh突变体为研究肾脏发育和测试肾积水治疗方法提供了一个模型。

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