Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self- association site
| Autor: | J Maréchal, L Morle, MT Ducluzeau, R Kastally, C Feo, Nicole Alloisio, L Denoroy, R Wilmotte, Jean Delaunay, Faouzi Baklouti, BG Forget |
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| Rok vydání: | 1992 |
| Předmět: |
Genetics
chemistry.chemical_classification Hereditary elliptocytosis Dimer Immunology Peptide macromolecular substances Cell Biology Hematology Biology medicine.disease Trypsin Cleavage (embryo) Biochemistry Molecular biology DNA sequencing Elliptocytosis chemistry.chemical_compound chemistry medicine Spectrin medicine.drug |
| Zdroj: | Blood. 80:809-815 |
| ISSN: | 1528-0020 0006-4971 |
| DOI: | 10.1182/blood.v80.3.809.809 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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