Nonsense mutations in human β-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation

Blood

Volumn 96, Issue 8, 2000, Pages 2895-2901

  Romäo, Luísa ^a   Inácio, Ângela ^a   Santos, Susana ^a   Ávila, Madalena ^a   Faustino, Paula ^a   Pacheco, Paula ^a   Lavinha, Joäo ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; MESSENGER RNA;

ANIMAL CELL; ARTICLE; BETA THALASSEMIA; CELL DIFFERENTIATION; CODON; CYTOPLASM; ERYTHROLEUKEMIA CELL; GENETIC TRANSFECTION; HUMAN; INTRON; MOUSE; NONHUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; RETICULOCYTE; RNA ANALYSIS;

EID: 0034667531     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v96.8.2895     Document Type: Article

References (32)

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5. Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon
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23. Determination of mRNA fate by different RNA polymerase II promoters
24. Nuclear degradation of nonsense mutated β-globin mRNA: A post-transcriptional mechanism to protect heterozygotes from severe clinical manifestations of β-thalassemia?
25. Nonsense codon mutations in the terminal exon of the β-globin gene are not associated with a reduction in β-mRNA accumulation: A mechanism for the phenotype of dominant β-thalassemia
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27. The stability of human β-globin mRNA is dependent on structural determinants positioned within its 3' untranslated region
28. α-Thalassemia caused by an unstable α-globin mutant
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30. A novel β°-thalassaemia mutation (codon 15, TGG → TGA) is prevalent in a population of central Portugal
31. Point mutations define a sequence flanking the AUG initiation codon that modulates translation by eukaryotic ribosomes
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