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Induction of β-Globin Synthesis in the β-Thalassaemia of Ferrara

Nature New Biology volume 238, pages 83–87 (1972)Cite this article

Abstract

THALASSAEMIAS are inherited disorders each characterized by a slow rate of synthesis of a specific polypeptide chain of haemoglobin, the most extensively studied being beta-thalassaemia, in which beta-globin synthesis is deficient. Homozygotes for beta-thalassaemia from most of the Mediterranean region synthesize some beta-globin1,2, homozygotes from the Ferrara region synthesize none3,4. In the common Mediterranean form there is some evidence for a defect in the quantity or quality of β-globin rnRNA5,6. Failure to synthesize beta-globin could be due to defective transcription, defective translation, which could result from the absence of mechanism specific for the translation of beta-globin mRNA7–11, which probably operates at chain initiation12–14, or incomplete translation, involving a mutation in beta-globin mRNA of an amino-acid-specifying codon to an initiation or termination codon. Dreyfus et al.15 found that reticulocytes of beta-thalassaemic subjects from Ferrara incorporated no radioactive amino-acids in the tryptic peptides beta-T1 (NH2-terminal) and beta-T14 (immediately adjacent to the COOH-terminal). These findings exclude the insertion of a terminating triplet after the codon for the eighth amino-acid and of an initiating signal before the codon for the 133rd amino-acid.

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Author information

Author notes

  1. PETER T. ROWLEY

    Present address: Department of Medicine and Pediatrics, University of Rochester, New York

  2. SANDRO PONTREMOLI

    Present address: Istituto di Chimica Biologica, Università di Genova,

Authors and Affiliations

  1. Centro di Studi Biochimici sul Morbo di Cooley, Cassa di Risparmio di Ferrara, Università di Ferrara,

    FRANCESCO CONCONI, PETER T. ROWLEY, LAURA DEL SENNO & SANDRO PONTREMOLI

  2. Istituto di Puericultura, Università di Ferrara,

    SILVIO VOLPATO

Authors
  1. FRANCESCO CONCONI
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  2. PETER T. ROWLEY
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  3. LAURA DEL SENNO
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  4. SANDRO PONTREMOLI
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  5. SILVIO VOLPATO
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CONCONI, F., ROWLEY, P., DEL SENNO, L. et al. Induction of β-Globin Synthesis in the β-Thalassaemia of Ferrara. Nature New Biology 238, 83–87 (1972). https://doi.org/10.1038/newbio238083a0

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  • DOI: https://doi.org/10.1038/newbio238083a0

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