Defective mRNA levels are responsible for a beta-thalassemia phenotype associated with Hb Federico II, a novel haemoglobin variant (beta 106 (G8) Leu->Val)
| Autor: | Emanuela Morelli, Ilaria Palumbo, Raffaele Sessa, Paola Izzo, Stella Puzone, Michela Grosso |
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| Přispěvatelé: | Grosso, Michela, Ilaria, Palumbo, Emanuela, Morelli, Stella, Puzone, Raffaele, Sessa, Izzo, Paola |
| Jazyk: | angličtina |
| Rok vydání: | 2008 |
| Předmět: |
Male
Heterozygote thalassemia Hemoglobins Abnormal Thalassemia Biology Hb variant Hemoglobins Leucine medicine Humans Codon mRNA instability Genetics Models Genetic beta-Thalassemia Hemoglobin variants Valine Sequence Analysis DNA Hematology medicine.disease Molecular biology Phenotype Pedigree Hemoglobin disorders Mrna level Mutation Female |
| Popis: | This study provides the first experimental evidence that a single nucleotide mutation within the coding region of the β-globin gene affects mRNA expression levels and causes a β-thalassemic defect. Furthermore, our data suggest that other regions besides the 3′UTR, whose role in constitutively regulation of this mechanism has been recently identified, may contribute to the stabilization of β-globin mRNA and could, therefore, help to characterize the molecular basis of thalassemic hemoglobinopathies. |
| Databáze: | OpenAIRE |
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