Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.
Alloisio N,
Wilmotte R,
Morlé L,
Baklouti F,
Maréchal J,
Ducluzeau MT,
Denoroy L,
Féo C,
Forget BG,
Kastally R, et al.
CNRS URA 1171, Faculté de Médecine Grange-Blanche, Lyon, France.
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.
PMID: 1638030 [PubMed - indexed for MEDLINE]