Khurana, OCoupland, LucyShelden, MeganHowitt, Susan2015-12-130014-5793http://hdl.handle.net/1885/90434Mutations in the human sulphate transporter gene, DTDST, have been implicated in several diseases. Analysis of affected patients has linked disease symptoms to faulty sulphate transporter activity. We have reproduced two of these mutations in SHST1, a homologous member of the family isolated from the tropical legume, Stylosanthes hamata. Both mutations significantly reduce sulphate transport activity of SHST1. These results indicate that conserved residues between distinct members of the family may share essential roles in structure or function. The results also suggest that putative helix 9 may be important for stability and/or trafficking of SHST1 to the plasma membrane.Keywords: carrier protein; mutant protein; sulfate; achondroplasia; article; chondrodysplasia; gene construct; gene expression; gene mutation; genetic analysis; human; ion transport; nonhuman; plant; priority journal; protein analysis; protein family; sequence homo Diastrophic dysplasia; Site-directed mutagenesis; Sulfate transporter; Transmembrane helix200010.1016/S0014-5793(00)01783-X2015-12-12