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| MUTATIONS IN THE TRANSMEMBRANE DOMAIN OF FGFR3 CAUSE THE MOST COMMON GENETIC FORM OF DWARFISM, ACHONDROPLASIA |
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| Author(s): SHIANG R, THOMPSON LM, ZHU YZ, CHURCH DM, FIELDER TJ, BOCIAN M, WINOKUR ST, WASMUTH JJ |
| Source: CELL Volume: 78 Issue: 2 Pages: 335-342 Published: JUL 29 1994 |
| Times Cited: 644 References: 39 |
| Abstract: Achondroplasia (ACH) is the most common genetic form of dwarfism. This disorder is inherited as an autosomal dominant trait, although the majority of cases are sporadic. A gene for ACH was recently localized to 4p16.3 by linkage analyses. The ACH candidate region includes the gene encoding fibroblast growth factor receptor 3 (FGFR3), which was originally considered as a candidate for the Huntington's disease gene. DNA studies revealed point mutations in the FGFR3 gene in ACH heterozygotes and homozygotes. The mutation on 15 of the 16 ACH-affected chromosomes was the same, a G-->A transition, at nucleotide 1138 of the cDNA. The mutation on the only ACH-affected chromosome 4 without the G-->A transition at nucleotide 1138 had a G-->C transversion at this same position. Both mutations result in the substitution of an arginine residue for a glycine at position 380 of the mature protein, which is in the transmembrane domain of FGFR3. |
| Document Type: Article |
| Language: English |
| Reprint Address: SHIANG, R (reprint author), UNIV CALIF IRVINE, COLL MED, DEPT BIOL CHEM, IRVINE, CA 92717 USA |
Addresses:
1. UNIV CALIF IRVINE, COLL MED, DEPT PEDIAT, IRVINE, CA 92717 USA
2. UNIV CALIF IRVINE, HUMAN GENOME RES CTR, IRVINE, CA 92717 USA |
| Publisher: CELL PRESS, 1050 MASSACHUSETTES AVE, CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: NZ242 |
| ISSN: 0092-8674 |
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