THE HUMAN PAX6 GENE IS MUTATED IN 2 PATIENTS WITH ANIRIDIA
THE HUMAN PAX6 GENE IS MUTATED IN 2 PATIENTS WITH ANIRIDIA
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DOI：
10.1038/ng0892-328
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发表时间：
1992-08-01
期刊：
影响因子：
30.8
通讯作者：
VANHEYNINGEN, V
中科院分区：
文献类型：
--
作者：
JORDAN, T;HANSON, I;VANHEYNINGEN, V
无虹膜症是一种遗传性眼部疾病，表现为虹膜发育不全。一个候选的无虹膜基因，AN，这是人类同源的小鼠Pax-6基因，最近被分离的位置克隆从11 p13的WAGR区域。在这里，我们描述了在两个散发性无虹膜的情况下，在DNA水平和RNA水平，这两个都被预测会影响蛋白质的功能检测到一个基因突变。Pax-6中的突变先前已在Small eye中描述，Small eye是提出的无虹膜小鼠模型。我们提出了新的表型证据，这种小鼠模型的有效性。
Aniridia is an inherited ocular disorder of variable expressivity characterized by iris hypoplasia. A candidate aniridia gene, AN, which is the human homologue of the mouse Pax-6 gene, has recently been isolated by positional cloning from the WAGR region of 11p13. Here we describe mutations in this gene in two cases of sporadic aniridia, one detected at the DNA level and one at the RNA level, both of which are predicted to affect protein function. Mutations in Pax-6 have been described previously in Small eye, the proposed mouse model for aniridia. We present new phenotypic evidence for the validity of this mouse model.