The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping

1994/09/01 by Johanna Hästbacka, Albert de la Chapelle, Melanie M. Mahtani +13 · 20 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Allele #Biology #Chromosome #Connective tissue disorders research #Gene #Gene mapping #Genetic linkage #Genetics #Haplotype #Linkage disequilibrium #Locus (genetics) #Neonatal Respiratory Health Research #Population #Positional cloning #RNA modifications and cancer

paper · doi:10.1016/0092-8674(94)90281-x

crossref issued 1994/09/01 · crossref published 1994/09/01 · crossref published-print 1994/09/01 · openalex publication_date 1994/09/01 · crossref created 2004/05/04 · crossref deposited 2021/06/17 · openalex created_date 2025/10/10 · crossref indexed 2026/06/18 · openalex updated_date 2026/08/01

Citations

• A simple method for displaying the hydropathic character of a protein
• Basic local alignment search tool
• A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
• MUTATIONS OF BACTERIA FROM VIRUS SENSITIVITY TO VIRUS RESISTANCE

Cited by

• Mapping of Five New Putative Anion Transporter Genes in Human and Characterization of SLC26A6, A Candidate Gene for Pancreatic Anion Exchanger
• The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells
• Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis
• Protein localization of SLC26A2 (DTDST) in rat kidney
• Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia?
• Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: Relationship to clinical severity and indications on the role of intracellular sulfate production
• Functional Characterization of Three Novel Tissue-specific Anion Exchangers SLC26A7, -A8, and -A9
• Functional Analysis of Diastrophic Dysplasia Sulfate Transporter
• Solute Carrier Family 26 Member a2 (Slc26a2) Protein Functions as an Electroneutral SO42−/OH−/Cl− Exchanger Regulated by Extracellular Cl−
• Identification of the Finnish founder mutation for diastrophic dysplasia (DTD)
• In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation
• Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations
• Homozygosity for a novel DTDST mutation in a child with a ‘broad bone‐platyspondylic’ variant of diastrophic dysplasia
• Physiological Roles and Regulation of Mammalian Sulfate Transporters
• Regulated transport of sulfate and oxalate by SLC26A2/DTDST
• A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia
• SLC26A2 (Diastrophic Dysplasia Sulfate Transporter) is Expressed in Developing and Mature Cartilage But Also in Other Tissues and Cell Types
• Epigenetic Silencing of the Sulfate Transporter Gene DTDST Induces Sialyl Lewisx Expression and Accelerates Proliferation of Colon Cancer Cells
• Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: Double‐layer patella as a reliable sign
• Sulfate transporter [wikipedia]