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Article

The exon 46-encoded sequence is essential for stability of human erythroid alpha-spectrin and heterodimer formation.

Blood - 15 Nov 1997

Wilmotte R, Harper S L, Ursitti J A, Maréchal J, Delaunay J, Speicher D W

Abstract excerpt

Human erythroid alpha-spectrin alleles responsible for hereditary elliptocytosis (alphaHE alleles) undergo increased incorporation into red blood cell membranes when the polymorphism alphaLELY (LELY: Low Expression LYon) occurs in trans. The alphaLELY polymorphism is characterized by a mutation in exon 40 at codon 1857 (CTA --> GTA, Leu --> Val) and the partial (50%) skipping of exon 46, which encodes residues...

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PMID: 9354690

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The exon 46-encoded sequence is essential for stability of human erythroid alpha-spectrin and heterodimer formation.PMID 9354690Read ↗

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.Semantic proximity Read ↗

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 alphaLELY in erythroid cells.Semantic proximity Read ↗

A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28.Semantic proximity Read ↗

Expression of spectrin alphaI/50 hereditary elliptocytosis and its association with the alphaLELY allele.Semantic proximity Read ↗

A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.Semantic proximity Read ↗

Ethnic distribution of allele alpha LELY, a low-expression allele of red-cell spectrin alpha-gene.Semantic proximity Read ↗

Impact of mutations at the P4 and P5 positions on the reaction of antithrombin with thrombin and elastase.Semantic proximity Read ↗

A splice site mutation of alpha-spectrin gene causing skipping of exon 18 in hereditary elliptocytosis.Semantic proximity Read ↗

Different impacts of alleles alphaLEPRA and alphaLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans.Semantic proximity Read ↗

The common hereditary elliptocytosis-associated α-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation.Semantic proximity Read ↗

Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.Semantic proximity Read ↗

Presence of allele alphaLELY in an Amazonian Indian population.Semantic proximity Read ↗

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