Achondroplastic dog breeds have no mutations in the transmembrane domain of the FGFR-3 gene

Citation
S. Martinez et al., Achondroplastic dog breeds have no mutations in the transmembrane domain of the FGFR-3 gene, CAN J VET R, 64(4), 2000, pp. 243-245
Citations number
13
Categorie Soggetti
Veterinary Medicine/Animal Health
Journal title
CANADIAN JOURNAL OF VETERINARY RESEARCH-REVUE CANADIENNE DE RECHERCHE VETERINAIRE
ISSN journal
08309000 → ACNP
Volume
64
Issue
4
Year of publication
2000
Pages
243 - 245
Database
ISI
SICI code
0830-9000(200010)64:4<243:ADBHNM>2.0.ZU;2-O
Abstract
One of the most common skeletal affections in humans is achondroplasia, a s hort-limbed dwarfism that is, in most cases, caused by mutations in the tra nsmembrane domain of the fibroblast growth factor receptor-3 (FGFR-8) gene. Due to the lack of sufficient radiological, genetic, and molecular studies , most types of skeletal anomalies in dogs are classified as achondroplasia . To initiate the molecular characterization of some osteochondrodysplastic dog breeds, we obtained the DNA sequence of the transmembrane domain of th e FGFR-3 gene from the dachshund, basset hound, bulldog, and German shepher d dogs. All 4 breeds showed no mutation in the evaluated region. This indic ates that the mutation responsible for the osteoehondrodysplastic phenotype in the tested dog breeds lies either elsewhere in the FGFR3 gene or in oth er ones involved in the formation and development of endochondral bone.