title: SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types.
abstract: Mutated alleles of the SLC26A2 (diastrophic dysplasia sulfate transporter or DTDST) gene cause each of the four recessive chondrodysplasias, i.e., diastrophic dysplasia (DTD), multiple epiphyseal dysplasia (MED), atelosteogenesis Type II (AO2), and achondrogenesis Type IB (ACG1B). SLC26A2 acts as an Na(+)-independent sulfate/chloride antiporter and belongs to the SLC26 anion transporter gene family, currently consisting of six homologous human members. Although Northern analysis has indicated some expression in all tissues studied, the only tissue known to be affected by SLC26A2 mutations is cartilage. Abundant SLC26A2 expression has previously been detected in normal human colon by in situ hybridization. We have used in situ hybridization and immunohistochemistry to examine multiple normal tissues for the expression of human SLC26A2. As expected, a strong signal for SLC26A2 mRNA and protein immunostaining were detected in developing fetal hyaline cartilage, while bronchial cartilage showed mRNA expression in adult tissues. SLC26A2 expression could also be detected in eccrine sweat glands, in bronchial glands, and in placental villi. In addition, immunoreactivity for the SLC26A2 protein was observed in exocrine pancreas. Our results suggest a more limited expression pattern for SLC26A2 than that found by Northern analysis. However, SLC26A2 expression is also detected in tissues not affected in chondrodysplasias caused by SLC26A2 mutations.
authors.affiliation: Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
authors.forename: S
authors.initials: S
authors.lastname: Haila
authors.forename: J
authors.initials: J
authors.lastname: Hästbacka
authors.forename: T
authors.initials: T
authors.lastname: Böhling
authors.forename: M L
authors.initials: ML
authors.lastname: Karjalainen-Lindsberg
authors.forename: J
authors.initials: J
authors.lastname: Kere
authors.forename: U
authors.initials: U
authors.lastname: Saarialho-Kere
mesh_terms: D027321:Anion Transport Proteins; D015152:Blotting, Northern; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism*; D002356:Cartilage / Q000196:embryology / Q000378:metabolism*; D005333:Fetus; D006801:Humans; D007150:Immunohistochemistry; D017403:In Situ Hybridization; D026901:Membrane Transport Proteins; D009154:Mutation; D009928:Organ Specificity; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000378:metabolism; D000076988:Sulfate Transporters; D013431:Sulfates / Q000378:metabolism*
chemical_list: D027321:Anion Transport Proteins; D002352:Carrier Proteins; D026901:Membrane Transport Proteins; D012333:RNA, Messenger; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters; D013431:Sulfates