| A MOUSE MODEL OF GREIG CEPHALOPOLYSYNDACTYLY SYNDROME - THE EXTRA-TOES(J) MUTATION CONTAINS AN INTRAGENIC DELETION OF THE GLI3 GENE |
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| Author(s): HUI CC, JOYNER AL |
| Source: NATURE GENETICS Volume: 3 Issue: 3 Pages: 241-246 Published: MAR 1993 |
| Times Cited: 395 References: 45 |
| Abstract: Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disorder affecting limb and craniofacial development. Recently, the human GLl3 gene has been proposed to be a candidate gene for GCPS. Here we describe the molecular characterization of extra-toes (Xt), which is a mouse model of GCPS. The Xt heterozygotes show craniofacial defects and a polydactyly phenotype similar to GCPS. We show that a deficiency of Gli3 expression in the Xt(J) mutant is due to a deletion within the 3' end of the gene. Furthermore, structures affected in the mouse mutant and human syndrome were found to correlate with expression domains of Gli3 in mouse. These results strongly suggest that the deficiency of GLl3 function leads to GCPS. |
| Document Type: Article |
| Language: English |
| Reprint Address: HUI, CC (reprint author), MT SINAI HOSP, SAMUEL LUNENFELD RES INST, DIV MOLEC & DEV BIOL, TORONTO M5G 1X5, ONTARIO CANADA |
Addresses:
1. UNIV TORONTO, DEPT MOLEC & MED GENET, TORONTO M5S 1A1, ONTARIO CANADA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: KP790 |
| ISSN: 1061-4036 |