| Autor: |
N, Alloisio, R, Wilmotte, J, Maréchal, P, Texier, L, Denoroy, C, Féo, Z, Benhadji-Zouaoui, J, Delaunay |
| Rok vydání: |
1993 |
| Předmět: |
|
| Zdroj: |
Blood. 81(10) |
| ISSN: |
0006-4971 |
| Popis: |
Spectrin Oran (alpha II/21) has been reported previously as a variant of the alpha II domain. Its expression level is low (10% of total spectrin) in heterozygotes denoting a major disadvantage of the mutated alpha-chain dimer or tetramer with respect to their normal counterparts. Spectrin Oran is associated with symptomatic elliptocytosis in the homozygous state. A 1-minute digestion time allowed to perceive a fast trypsin cleavage (not existing normally) after Arg 890 (helix 3 of repeating segment alpha 9). The responsible change was the lack of amino acids 822 to 862 (helix 2 of repeating segment alpha 8). Such a situation fits with the phasing of spectrin according to which mutated helix 2 and distorted helix 3 are adjacent to one another. The internal position of the structural change accounts for the slight self-association defect. The ultimate genetic lesion was a G to A substitution (intronic position-1) in the acceptor splice site of intron 17 resulting in skipping of exon 18. The substitution also created an acceptor splice site 1 base downstream, but the latter was used at a low grade. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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