title: Two distinct variants of erythrocyte spectrin beta IV domain.
abstract: We report two distinct variants affecting the beta IV domain of erythrocyte spectrin, designated spectrin Saint-Chamond and spectrin Tlemcen. They were discovered in a French family and an Algerian individual, respectively. They appeared clinically and morphologically asymptomatic in the heterozygous state. In two-dimensional maps of spectrin partial digests, both mutants were manifested by cathodic shifts (with no change of the molecular weights) of the peptides that cover the N-terminal region of spectrin beta IV domain. The relevance of the abnormal peptides to the beta IV domain was established by quantitative analysis and by Western blotting using anti-beta IV domain-specific antibodies. These two variants are thus far the most distal variants of spectrin to be defined on an unequivocal structural basis.
authors: Génétique Moléculaire de la Membrane Erythrocytaire, Faculté de Médecine Grange-Blanche, Lyon, France.
authors: B
authors: B
authors: Pothier
authors: N
authors: N
authors: Alloisio
authors: L
authors: L
authors: Morlé
authors: J
authors: J
authors: Maréchal
authors: H
authors: H
authors: Barthélemy
authors: M T
authors: MT
authors: Ducluzeau
authors: A
authors: A
authors: Dorier
authors: J
authors: J
authors: Delaunay
mesh_terms: D000328:Adult; D015153:Blotting, Western; D004912:Erythrocytes / Q000166:cytology; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009154:Mutation; D010449:Peptide Mapping; D013049:Spectrin / Q000235:genetics* / Q000276:immunology
chemical_list: D013049:Spectrin