Abstract
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.
Publication types
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, Non-P.H.S.
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
4,4'-Diisothiocyanostilbene-2,2'-Disulfonic Acid
-
4-Acetamido-4'-isothiocyanatostilbene-2,2'-disulfonic Acid / analogs & derivatives
-
4-Acetamido-4'-isothiocyanatostilbene-2,2'-disulfonic Acid / chemistry
-
Acanthocytes / metabolism*
-
Anion Exchange Protein 1, Erythrocyte / chemistry
-
Anion Exchange Protein 1, Erythrocyte / genetics*
-
Anion Exchange Protein 1, Erythrocyte / metabolism
-
Anions
-
Biological Transport
-
DNA
-
Humans
-
Leucine / genetics*
-
Mutation*
-
Proline / genetics*
Substances
-
Anion Exchange Protein 1, Erythrocyte
-
Anions
-
4-Acetamido-4'-isothiocyanatostilbene-2,2'-disulfonic Acid
-
DNA
-
Proline
-
Leucine
-
4,4'-Diisothiocyanostilbene-2,2'-Disulfonic Acid