Diastrophic Dysplasia Sulfate Transporter (DTDST)

DTDST cDNA encoding a 739-amino acid protein that is 73% identical to the human coding sequence. Northern blot analysis suggested that expression is predominantly in cartilage and intestine. The rat gene contains at least 5 exons. Injection of rat and human DTDST cRNA into frog oocytes induces Na(+)-independent sulfate transport that can be inhibited by extracellular chloride and bicarbonate.The gene was found to encode a novel sulfate transporter, and was thus symbolized DTDST. Impaired function of DTDST product would be expected to lead to undersulfation of proteoglycans in cartilage matrix and thereby to cause a clinical phenotype such as diastrophic dysplasia. A defect in sulfate transport was demonstrable in fibroblasts from a DTD patient. The full transcript was expected to be 8.4 kb.