title: Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.
abstract: Spectrin Jendouba (alpha II/31) was found in a Tunisian family. In the heterozygous state, it is associated with asymptomatic elliptocytosis and a minimal defect in spectrin dimer self-association. On partial digestion of spectrin with trypsin, an abnormal cleavage appeared following Lys 788. Peptide and DNA sequencing indicated that the responsible mutation is alpha 791 Asp----Glu (GAC----GAA). As in most alpha-spectrin variants associated with elliptocytosis, the change alters helix 3 of the proposed triple helical model of spectrin structure. Modified helix 3 in repeat alpha 8 is the most distant from the N-terminus of alpha-spectrin in known variants associated with elliptocytosis.
authors.affiliation: CNRS URA 1171, Faculté de Médecine Grange-Blanche, Lyon, France.
authors.forename: N
authors.initials: N
authors.lastname: Alloisio
authors.forename: R
authors.initials: R
authors.lastname: Wilmotte
authors.forename: L
authors.initials: L
authors.lastname: Morlé
authors.forename: F
authors.initials: F
authors.lastname: Baklouti
authors.forename: J
authors.initials: J
authors.lastname: Maréchal
authors.forename: M T
authors.initials: MT
authors.lastname: Ducluzeau
authors.forename: L
authors.initials: L
authors.lastname: Denoroy
authors.forename: C
authors.initials: C
authors.lastname: Féo
authors.forename: B G
authors.initials: BG
authors.lastname: Forget
authors.forename: R
authors.initials: R
authors.lastname: Kastally
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002648:Child; D015180:Electrophoresis, Gel, Two-Dimensional; D004591:Electrophoresis, Polyacrylamide Gel; D004612:Elliptocytosis, Hereditary / Q000097:blood / Q000235:genetics*; D005091:Exons; D005260:Female; D014644:Genetic Variation; D006801:Humans; D046911:Macromolecular Substances; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D010641:Phenotype; D013049:Spectrin / Q000235:genetics* / Q000302:isolation & purification / Q000378:metabolism
chemical_list: D046911:Macromolecular Substances; D009838:Oligodeoxyribonucleotides; D013049:Spectrin