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Titolo:
THE DIASTROPHIC DYSPLASIA GENE ENCODES A NOVEL SULFATE TRANSPORTER - POSITIONAL CLONING BY FINE-STRUCTURE LINKAGE DISEQUILIBRIUM MAPPING
Autore:
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;
Indirizzi:
WHITEHEAD INST BIOMED RES,9 CAMBRIDGE CTR CAMBRIDGE MA 02142 UNIV HELSINKI,DEPT MED GENET SF-00014 HELSINKI FINLAND FOLKHALSAN INST GENET SF-00014 HELSINKI FINLAND UNIV TEXAS,SW MED CTR,DEPT BIOCHEM DALLAS TX 75235 UNIV TEXAS,SW MED CTR,MCDERMOTT CTR DALLAS TX 75235 MIT,DEPT BIOL CAMBRIDGE MA 02139 MASSACHUSETTS GEN HOSP,DEPT NEUROGENET BOSTON MA 02129 UNIV HELSINKI,CENT HOSP,DEPT MED GENET SF-00290 HELSINKI FINLAND
Titolo Testata:
Cell
fascicolo: 6, volume: 78, anno: 1994,
pagine: 1073 - 1087
SICI:
0092-8674(1994)78:6<1073:TDDGEA>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
3'-PHOSPHOADENOSINE 5'-PHOSPHOSULFATE SYNTHESIS; INTACT ARTICULAR-CARTILAGE; BORDER MEMBRANE-VESICLES; CYSTIC-FIBROSIS GENE; BRACHYMORPHIC MICE; INORGANIC SULFATE; NUCLEOTIDE-SEQUENCE; HAPLOTYPE ANALYSIS; HEPARAN-SULFATE; RAT INVIVO;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
83
Recensione:
Indirizzi per estratti:
Citazione:
J. Hastbacka et al., "THE DIASTROPHIC DYSPLASIA GENE ENCODES A NOVEL SULFATE TRANSPORTER - POSITIONAL CLONING BY FINE-STRUCTURE LINKAGE DISEQUILIBRIUM MAPPING", Cell, 78(6), 1994, pp. 1073-1087

Abstract

Diastrophic dysplasia (DTD) is a well-characterized autosomal recessive osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities. The disease occursin 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 DTDgene 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/07/20 alle ore 21:28:41