| | |  | | | | Record from Web of Science® | | | | | | |
| GENOMIC STRUCTURE, EVOLUTIONARY CONSERVATION AND ANIRIDIA MUTATIONS IN THE HUMAN PAX6 GENE |
|
|
| Author(s): GLASER T, WALTON DS, MAAS RL |
| Source: NATURE GENETICS Volume: 2 Issue: 3 Pages: 232-239 Published: NOV 1992 |
| Times Cited: 349 References: 62 |
| 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. HARVARD UNIV, BRIGHAM & WOMENS HOSP, SCH MED, DEPT MED, DIV GENET, BOSTON, MA 02115 USA
2. HARVARD UNIV, MASSACHUSETTS EYE & EAR INFIRM, SCH MED, BOSTON, MA 02114 USA
3. HARVARD UNIV, BRIGHAM & WOMENS HOSP, SCH MED, HOWARD HUGHES MED INST, BOSTON, MA 02115 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: JW165 |
| ISSN: 1061-4036 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |