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| PAX3 GENE STRUCTURE AND MUTATIONS - CLOSE ANALOGIES BETWEEN WAARDENBURG SYNDROME AND THE SPLOTCH MOUSE |
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| Author(s): TASSABEHJI M, NEWTON VE, LEVERTON K, TURNBULL K, SEEMANOVA E, KUNZE J, SPERLING K, STRACHAN T, READ AP |
| Source: HUMAN MOLECULAR GENETICS Volume: 3 Issue: 7 Pages: 1069-1074 Published: JUL 1994 |
| Times Cited: 56 References: 31 |
| Abstract: The human PAX3 gene contains a paired box and a paired-type homeobox, and is believed to play a role in pattern formation in the embryo. We describe the exon-intron structure of the homeobox-containing part of PAX3, complementing earlier descriptions of the 5' part of the gene. Mutations in PAX3 have been described in patients with Type 1 Waardenburg syndrome, who have hearing loss and pigmentary abnormalities, while Splotch mice have mutations in the homologous mouse Pax-3 gene. We describe a series of patients who have previously unidentified PAX3 mutations. These include a chromosomal deletion, a splice-site mutation and an amino acid substitution which closely correspond to the molecular changes seen in the Splotch-retarded, Splotch and Splotch-delayed mouse mutants respectively. These mutations confirm that Waardenburg syndrome is produced by gene dosage effects and show that the phenotypic differences between Splotch mice and humans with Waardenburg syndrome are caused by differences in genetic background rather than different primary effects of the mutations. |
| Document Type: Article |
| Language: English |
Addresses:
1. ST MARYS HOSP, DEPT MED GENET, MANCHESTER M13 0JH, LANCS ENGLAND
2. UNIV MANCHESTER, CTR AUDIOL, MANCHESTER, LANCS ENGLAND
3. CHARLES UNIV, DEPT CLIN GENET, PRAGUE, CZECH REPUBLIC
4. FREE UNIV BERLIN, INST HUMANGENET, W-1000 BERLIN, GERMANY |
| Publisher: OXFORD UNIV PRESS UNITED KINGDOM, WALTON ST JOURNALS DEPT, OXFORD, ENGLAND OX2 6DP |
| Subject Category: Biochemistry & Molecular Biology; Genetics & Heredity |
| IDS Number: NX341 |
| ISSN: 0964-6906 |
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