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Hemoglobin. 2012;36(4):399-406. doi: 10.3109/03630269.2012.698341.

The +1,506 (A>C) mutation in the 3' untranslated region affects β-globin expression.

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Faculty of Health Sciences, Yamaguchi University Graduate School of Medicine, Ube, Japan.


The 3' untranslated region (3'UTR) is known to be important to mRNA stability but the stabilization mechanism on the β-globin gene is not fully elucidated. We speculated in our previous report that +1,506 (A>C) mutation (HGVS nomenclature: *32A>C) on the β-globin 3'UTR causes β-thalassemia (β-thal) in order to destabilize the mRNA. To investigate further, we studied the expression efficiency for the mutation with a luciferase assay. We made recombinant pGL4.74 vectors in which the luciferase 3'UTR was replaced with the wild-type and mutant 3'UTR of the β-globin gene. For a comparison experiment, recombinant vectors were made not only for this mutation but also six other mutations in the β-globin 3'UTR which bring about β-thal or affect mRNA stability. The +1,506 mutation led to a 30.0% lower protein expression than normal in this assay. We concluded that this mutation destabilizes mRNA and consequently decreases the β-globin amount to finally cause β-thal. Our study highlights the crucial area of β-globin 3'UTR for protein expression.

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