| | |  | | | | Record from Web of Science® | | | | | | |
| THE DIASTROPHIC DYSPLASIA GENE ENCODES A NOVEL SULFATE TRANSPORTER - POSITIONAL CLONING BY FINE-STRUCTURE LINKAGE DISEQUILIBRIUM MAPPING |
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| Author(s): HASTBACKA J, DELACHAPELLE A, MAHTANI MM, CLINES G, REEVEDALY MP, DALY M, HAMILTON BA, KUSUMI K, TRIVEDI B, WEAVER A, COLOMA A, LOVETT M, BUCKLER A, KAITILA I, LANDER ES |
| Source: CELL Volume: 78 Issue: 6 Pages: 1073-1087 Published: SEP 23 1994 |
| Times Cited: 485 References: 83 |
| Abstract: Diastrophic dysplasia (DTD) is a well-characterized autosomal recessive osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities. The disease occurs in most populations, but is particularly prevalent in Finland owing to an apparent founder effect. DTD maps to distal chromosome 5q and, based on linkage disequilibrium studies in the Finnish population, we had previously predicted that the DTD gene should lie about 64 kb away from the CSF1R locus. Here, we report the positional cloning of the DTD gene by finestructure linkage disequilibrium mapping. The gene lies in the predicted location, approximately 70 kb proximal to CSF1R, and encodes a novel sulfate transporter. Impaired function of its product is likely to lead to undersulfation of proteoglycans in cartilage matrix and thereby to cause the clinical phenotype of the disease. These results demonstrate the power of linkage disequilibrium mapping in isolated populations for positional cloning. |
| Document Type: Article |
| Language: English |
| Reprint Address: HASTBACKA, J (reprint author), WHITEHEAD INST BIOMED RES, 9 CAMBRIDGE CTR, CAMBRIDGE, MA 02142 USA |
Addresses:
1. UNIV HELSINKI, DEPT MED GENET, SF-00014 HELSINKI, FINLAND
2. FOLKHALSAN INST GENET, SF-00014 HELSINKI, FINLAND
3. UNIV TEXAS, SW MED CTR, DEPT BIOCHEM, DALLAS, TX 75235 USA
4. UNIV TEXAS, SW MED CTR, MCDERMOTT CTR, DALLAS, TX 75235 USA
5. MIT, DEPT BIOL, CAMBRIDGE, MA 02139 USA
6. MASSACHUSETTS GEN HOSP, DEPT NEUROGENET, BOSTON, MA 02129 USA
7. UNIV HELSINKI, CENT HOSP, DEPT MED GENET, SF-00290 HELSINKI, FINLAND |
| Publisher: CELL PRESS, 1050 MASSACHUSETTES AVE, CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: PJ294 |
| ISSN: 0092-8674 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |