Glaser T, Walton D S, Maas R L
Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115.
Nat Genet. 1992 Nov;2(3):232-9. doi: 10.1038/ng1192-232.
Aniridia is a semidominant disorder in which development of the iris, lens, cornea and retina is disturbed. The mouse mutation Small eye (Sey), which has been proposed as a model for aniridia, results from defects in Pax-6, a gene containing paired-box and homeobox motifs that is specifically expressed in the developing eye and brain. To test the role of PAX6 in aniridia, we isolated human cDNA clones and determined the intron-exon structure of this gene. PAX6 spans 22 kilobases and is divided into 14 exons. Analysis of DNA from 10 unrelated aniridia patients revealed intragenic mutations in three familial and one sporadic case. These findings indicate that the human aniridia and murine Small eye phenotypes arise from homologous defects in PAX6.
无虹膜症是一种半显性疾病，其中虹膜、晶状体、角膜和视网膜的发育受到干扰。小鼠突变小眼（Sey）已被提议作为无虹膜症的模型，它是由Pax-6基因缺陷导致的，Pax-6基因包含配对盒和同源盒基序，在发育中的眼睛和大脑中特异性表达。为了测试PAX6在无虹膜症中的作用，我们分离了人类cDNA克隆并确定了该基因的内含子-外显子结构。PAX6跨度为22千碱基，分为14个外显子。对10名无亲缘关系的无虹膜症患者的DNA分析显示，在3个家族性病例和1个散发性病例中存在基因内突变。这些发现表明，人类无虹膜症和小鼠小眼表型是由PAX6中的同源缺陷引起的。
