title: Band 3 Tokyo: Thr837-->Ala837 substitution in erythrocyte band 3 protein associated with spherocytic hemolysis.
abstract: We report a case of spherocytosis associated with erythrocyte band 3 deficiency. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis of erythrocyte membrane proteins showed that the patient's band 3 was reduced to about 80% of the control level. Molecular analysis revealed that this quantitative alteration was accompanied by a novel base change at codon 837 (ACG-->GCG) of the AE1 gene, resulting in substitution of alanine for threonine. In bone marrow mononuclear cells, both mutant and wild-type mRNA were comparably detected, suggesting that this mutation interfered with band 3 processing or assembly, leading to impaired accumulation of mutant band 3 in the plasma membrane.
authors.affiliation: Department of Internal Medicine, Aoto Hospital, Jikei University School of Medicine, Tokyo, Japan. aoto-hsp@fa2.so-net.pr.jp
authors.forename: S
authors.initials: S
authors.lastname: Iwase
authors.forename: H
authors.initials: H
authors.lastname: Ideguchi
authors.forename: M
authors.initials: M
authors.lastname: Takao
authors.forename: J
authors.initials: J
authors.lastname: Horiguchi-Yamada
authors.forename: M
authors.initials: M
authors.lastname: Iwasaki
authors.forename: S
authors.initials: S
authors.lastname: Takahara
authors.forename: T
authors.initials: T
authors.lastname: Sekikawa
authors.forename: S
authors.initials: S
authors.lastname: Mochizuki
authors.forename: H
authors.initials: H
authors.lastname: Yamada
mesh_terms: D000328:Adult; D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics*; D001457:Anion Exchange Protein 1, Erythrocyte / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D013103:Spherocytosis, Hereditary / Q000097:blood / Q000235:genetics*; D013912:Threonine / Q000235:genetics