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J Biol Chem, Vol. 273, Issue 11, 6380-6388, March 13, 1998
From the e Molecular Medicine and f Renal Units, Beth
Israel Deaconess Medical Center, g Division of Nephrology and
j Department of Laboratory Medicine, The Children's Hospital,
a Department of Pathology, Brigham and Women's Hospital, and
Departments of m Medicine, h Pediatrics, n Cell
Biology, and b Pathology, Harvard Medical School, Boston,
Massachusetts 02215; the i Division of Nephrology and
Departments of k Medicine and l Pediatrics, University of
Alabama at Birmingham, Birmingham, Alabama 35294, and c Charles
University School of Medicine and Institute of Hematology and Blood
Transfusion, 12820 Prague, Czech Republic
Distal renal tubular acidosis (dRTA) is
characterized by defective urinary acidification by the distal nephron.
Cl
Autosomal Dominant Distal Renal Tubular Acidosis Is Associated in
Three Families with Heterozygosity for the R589H Mutation in the AE1
(Band 3) Cl
/HCO3
Exchanger
/HCO3 exchange mediated
by the AE1 anion exchanger in the basolateral membrane of type A
intercalated cells is thought to be an essential component of lumenal
H+ secretion by collecting duct intercalated cells. We
evaluated the AE1 gene as a possible candidate gene for
familial dRTA. We found in three unrelated families with autosomal
dominant dRTA that all clinically affected individuals were
heterozygous for a single missense mutation encoding the mutant AE1
polypeptide R589H. Patient red cells showed ~20% reduction in
sulfate influx of normal 4,4'-diisothiocyanostilbene-2,2'-disulfonic
acid sensitivity and pH dependence. Recombinant kidney AE1 R589H
expressed in Xenopus oocytes showed 20-50% reduction in
Cl/Cl and
Cl/HCO3 exchange, but did
not display a dominant negative phenotype for anion transport when
coexpressed with wild-type AE1. One apparently unaffected individual
for whom acid-loading data were unavailable also was heterozygous for
the mutation. Thus, in contrast to previously described heterozygous
loss-of-function mutations in AE1 associated with red cell
abnormalities and apparently normal renal acidification, the
heterozygous hypomorphic AE1 mutation R589H is associated with dominant
dRTA and normal red cells.
Copyright © 1998 by The American Society for Biochemistry and Molecular Biology, Inc.
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