Nuclear degradation of nonsense mutated beta-globin mRNA: a post-transcriptional mechanism to protect heterozygotes from severe clinical manifestations of beta-thalassemia?

Abstract excerpt

Nonsense mutations of the beta-globin gene are a common cause of beta-thalassemia. It is a hallmark of these mutations not only to cause a lack of protein synthesis but also a reduction of mRNA expression. Both the pathophysiologic significance and the underlying mechanisms for this surprising ph...

Topics

• Base Sequence
• Cell Fractionation
• Cell Nucleus
• Globins
• HeLa Cells
• Herpesvirus 1, Human
• Heterozygote
• Humans
• Molecular Sequence Data
• Mutation
• Protein Biosynthesis
• RNA Precursors