Bruce, LJ; Cope, DL; Jones, GK; Schofield, AE; Burley, M; Povey, S; ... Tanner, MJA; + view all Bruce, LJ; Cope, DL; Jones, GK; Schofield, AE; Burley, M; Povey, S; Unwin, RJ; Wrong, O; Tanner, MJA; - view fewer (1997) Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (band 3, AE1) gene. J CLIN INVEST , 100 (7) 1693 - 1707.
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All affected patients in four families with autosomal dominant familial renal tubular acidosis (dRTA) were heterozygous for mutations in their red cell HCO3-/Cl- exchanger, band 3 (AE1, SLC4A1) genes, and these mutations were not found in any of the nine normal family members studied. The mutation Arg(589)-->His was present in two families, while Arg(589)-->Cys and Ser613-->Phe changes were found in the other families. Linkage studies confirmed the co-segregation of the disease with a genetic marker close to AE1. The affected individuals with the Ar-589 mutations had reduced red cell sulfate transport and altered glycosylation of the red cell band 3 N-glycan chain. The red cells of individuals with the Ser(613)-->Phe mutation had markedly increased red cell sulfate transport but almost normal red cell iodide transport. The erythroid and kidney isoforms of the mutant band 3 proteins were expressed in Xenopus oocytes and all showed significant chloride transport activity. We conclude that dominantly inherited dRTA is associated with mutations in band 3; but both the disease and its autosomal dominant inheritance are not related simply to the anion trans; port activity of the mutant proteins.
|Title:||Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (band 3, AE1) gene|
|Keywords:||erythrocyte, kidney, acidosis, membrane, nephrocalcinosis, STILBENE DISULFONATE BINDING, HUMAN-ERYTHROCYTE, TRANSPORT PROTEIN, GLYCOPHORIN-A, H+-ATPASE, INTERCALATED CELLS, SJOGRENS-SYNDROME, MEMBRANE DOMAIN, XENOPUS-OOCYTES, HUMAN GENOME|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of)|
UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Medicine (Division of) > Internal Medicine
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