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Titolo:
LOW EXPRESSION ALLELE-ALPHA(LELY) OF RED-CELL SPECTRIN IS ASSOCIATED WITH MUTATIONS IN EXON-40 (ALPHA(V 41)-POLYMORPHISM) AND INTRON-45 ANDWITH PARTIAL SKIPPING OF EXON-46/
Autore:
WILMOTTE R; MARECHAL J; MORLE L; BAKLOUTI F; PHILIPPE N; KASTALLY R; KOTULA L; DELAUNAY J; ALLOISIO N;
Indirizzi:
FAC MED GRANGE BLANCHE,CNRS,URA 1171 F-69373 LYON 08 FRANCE INST PASTEUR LYON LYON FRANCE HOP DEBROUSSE F-69005 LYON FRANCE HOP HABIB THAMEUR,SERV HEMATOL BIOL TUNIS TUNISIA WISTAR INST ANAT & BIOL PHILADELPHIA PA 19104
Titolo Testata:
The Journal of clinical investigation
fascicolo: 5, volume: 91, anno: 1993,
pagine: 2091 - 2096
SICI:
0021-9738(1993)91:5<2091:LEAORS>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
SP-ALPHA-I/65 HEREDITARY ELLIPTOCYTOSIS; SPLICE SITE MUTATION; ALPHA-I DOMAIN; MEMBRANE SKELETON; ERYTHROCYTE SPECTRIN; MOLECULAR DEFECT; NORTH-AFRICA; GENE; DISORDERS; ORGANIZATION;
Keywords:
RED CELL; ALPHA-SPECTRIN; HEMOLYTIC ANEMIA; POINT MUTATIONS; GENE EXPRESSION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
36
Recensione:
Indirizzi per estratti:
Citazione:
R. Wilmotte et al., "LOW EXPRESSION ALLELE-ALPHA(LELY) OF RED-CELL SPECTRIN IS ASSOCIATED WITH MUTATIONS IN EXON-40 (ALPHA(V 41)-POLYMORPHISM) AND INTRON-45 ANDWITH PARTIAL SKIPPING OF EXON-46/", The Journal of clinical investigation, 91(5), 1993, pp. 2091-2096

Abstract

The alpha(v/41) polymorphism of erythroid alpha-spectrin has been characterized initially by an increased susceptibility to proteolysis of the alphaIV-alphaV domain junction (Alloisio N., L. Morle, J. Marechal, A.-F. Roux, M.-T. Ducluzeau, D. Guetarni, B. Pothier, F. Baklouti, A. Ghanem, R. Kastally, et al. 1991. J. Clin. Invest. 87:2169-2177). Until now, it has been found associated invariably with a low expressionlevel of the corresponding a chain. Among 61 chromosomes investigatedin French and North African individuals or kindreds, we observed 19 chromosomes with the alpha(v/41) polymorphism. With no single exception, the latter displayed a point mutation in exon 40 (Leu --> Val; CTA --> GTA) at position alpha 1857. According to the triple helical model of spectrin structure, this change accounts for the peptide maps' abnormalities. Sequencing the entire alphaV domain cDNA disclosed, in addition, a partial skipping of exon 46. At the gene level, a substitution(C --> T) was evidenced at nucleotide -12 of intron 45. This mutationappeared linked to the exon 40 mutation in 17 chromosomes, again withno single exception, among 53 examined chromosomes. We hypothesized that the lack of exon 46 would hamper the nucleation process and eventually account for the low expression feature. The present doubly mutated allele was renamed allele alpha(LELY) (low expression, Lyon).

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 15:11:43