Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.

Thomas M Glaser, D. S. Walton, R. L. Maas

Research output: Contribution to journalArticle

529 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)232-239
Number of pages8
JournalNature Genetics
Volume2
Issue number3
DOIs
StatePublished - Nov 1992
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.'. Together they form a unique fingerprint.

Cite this