Band 3 HT, a human red-cell variant associated with acanthocytosis and increased anion transport, carries the mutation Pro-868-->Leu in the membrane domain of band 3.
1. We have studied band 3 HT, a human red-cell band 3 variant with increased M(r), which is associated with abnormal red-cell shape (acanthocytosis) and increased anion-transport activity. 2. We have shown that the increased M(r) does not result from the presence of the band 3 Memphis mutation, and that the variant band 3 is covalently labelled by 4,4'-di-isothiocyanato-1,2-diphenylethane-2,2'-disulphonic acid (H2DIDS) less readily than normal. 3. cDNA cloning studies show that band 3 HT results from the mutation Pro-868-->Leu, and the possible significance of the mutation in the altered anion-transport activity and cytoskeleton binding properties of band 3 HT is discussed.
Bruce
L J
LJ
Department of Biochemistry, School of Medical Sciences, University of Bristol, U.K.
Kay
M M
MM
Lawrence
C
C
Tanner
M J
MJ
D017878:4,4'-Diisothiocyanostilbene-2,2'-Disulfonic Acid; D012856:4-Acetamido-4'-isothiocyanatostilbene-2,2'-disulfonic Acid / Q000031:analogs & derivatives / Q000737:chemistry; D000050:Acanthocytes / Q000378:metabolism*; D001457:Anion Exchange Protein 1, Erythrocyte / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D000838:Anions; D001692:Biological Transport; D004247:DNA; D006801:Humans; D007930:Leucine / Q000235:genetics*; D009154:Mutation; D011392:Proline / Q000235:genetics*
D001457:Anion Exchange Protein 1, Erythrocyte; D000838:Anions; D012856:4-Acetamido-4'-isothiocyanatostilbene-2,2'-disulfonic Acid; D004247:DNA; D011392:Proline; D007930:Leucine; D017878:4,4'-Diisothiocyanostilbene-2,2'-Disulfonic Acid