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Titolo:
Mutation at position -12 of intron 45 (c -> t) plays a prevalent role in the partial skipping of exon 46 from the transcript of allele alpha(LELY) inerythroid cells
Autore:
Wilmotte, R; Marechal, J; Delaunay, J;
Indirizzi:
Inst Pasteur, CNRS URA 1171, Lab Genet Mol Humaine, Lyon, France Inst Pasteur Lyon France URA 1171, Lab Genet Mol Humaine, Lyon, France
Titolo Testata:
BRITISH JOURNAL OF HAEMATOLOGY
fascicolo: 4, volume: 104, anno: 1999,
pagine: 855 - 859
SICI:
0007-1048(199903)104:4<855:MAP-OI>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALPHA-SPECTRIN; HEREDITARY ELLIPTOCYTOSIS; POLYPYRIMIDINE TRACT; SITE; GENE; IDENTIFICATION; EXPRESSION; PROTEIN;
Keywords:
SPTA1 gene; allele alpha(LELY); partial skipping; polypyrimidine tract; hereditary elliptocytosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
20
Recensione:
Indirizzi per estratti:
Indirizzo: Wilmotte, R Int Agcy Res Canc, 150 Cours Albert Thomas, F-69372 Lyon, France Int Agcy Res Canc 150 Cours Albert Thomas Lyon France F-69372
Citazione:
R. Wilmotte et al., "Mutation at position -12 of intron 45 (c -> t) plays a prevalent role in the partial skipping of exon 46 from the transcript of allele alpha(LELY) inerythroid cells", BR J HAEM, 104(4), 1999, pp. 855-859

Abstract

Allele alpha(LELY) is a common low-expression allele of the erythroid spectrin SPTA1 gene. It results in the aggravated expression of hereditary elliptocytosis due to SPTA1 gene mutations occurring in trans. Allele alpha(LELY) contains, in particular, mutations in introns 45 and 46, both in poly pyrimidine tracts, and causes the partial skipping of exon 46. The corresponding six amino acids belong to the nucleation site where the dimerization process of spectrin begins. In this work we investigated the cause of exon 46partial skipping. We made four types of constructs with or without the intron 45 mutation, and with or without intron 46 mutation. Intron 45 mutationby itself dramatically triggered partial skipping of exon 46. Intron 46 mutation had no effect by itself. It was not possible to assess whether it modulated, even to a very small extent, the activity of intron 45 mutation. Taken together, intron 45 mutation is the prevalent, if not the exclusive, determinant of the partial skipping of exon 46 in the transcript of allele alpha(LELY).

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 15:20:49