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Mutations of conserved arginines in the membrane domain of erythroid band 3
lead to a decrease in membrane-associated band 3 and to the phenotype of
hereditary spherocytosis
P Jarolim, HL Rubin, V Brabec, L Chrobak, AS Zolotarev, SL Alper, C Brugnara, H Wichterle and J Palek
Department of Biomedical Research, St Elizabeth's Medical Center, Tufts
University School of Medicine, Boston, MA 02135.
To elucidate the molecular basis of band 3 deficiency in a recently defined
subset of patients with autosomal dominant hereditary spherocytosis (HS),
we screened band 3 cDNA for single-strand conformation polymorphism (SSCP).
In 5 of 17 (29%) unrelated HS subjects with band 3 deficiency, we detected
substitutions R760W, R760Q, R808C, and R870W that were all coinherited with
the HS phenotype. The involved arginines are highly conserved throughout
evolution. To examine whether or not the product of the mutant allele is
inserted into the membrane, we studied one HS subject who was doubly
heterozygous for the R760Q mutation and the K56E (band 3sMEMPHIS)
polymorphism that results in altered electrophoretic mobility of the band 3
Memphis proteolytic fragments. We detected only the band 3MEMPHIS in the
erythrocyte membrane indicating that the protein product of the mutant,
R760Q, band 3 allele is absent from the red blood cell membrane. These
findings suggest that the R760Q substitution, and probably the other
arginine subsitutions, produce band 3 deficiency either by precluding
incorporation of the mutant protein into the red blood cell membrane or by
leading to loss of mutant protein from differentiating erythroid
precursors.
Volume 85,
Issue 3,
pp. 634-640,
02/01/1995
Copyright © 1995 by The American Society of Hematology
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