Abstract
In γ-β-thalassaemia, human γ- and β-globin gene expression is suppressed; this results in a severe anaemia in newborns which subsequently develops into a β-thalassaemia syndrome in adult life. This hereditary disease is now shown to be the result of a deletion of at least 40,000 base pairs of the γδβ -globin gene locus. The γ- and δ-globin genes are deleted in the affected chromosome but, surprisingly, the β-globin gene is still present, together with a large segment of the DNA sequences flanking the gene on its 5′-side and the entire region on the 3′-side of the gene. Hence, a deletion of DNA far from the β-globin gene results in the suppression of its activity.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 51 print issues and online access
$199.00 per year
only $3.90 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Weatherall, D. J. & Clegg, J. B. Cell 16, 467 (1979).
Southern, E. M. J. molec. Biol. 98, 503 (1975).
Flavell, R. A. et al. Cell 15, 25 (1978).
Fritsch, E. F., Parker, R. C., Blake, G. & Maniatis, T. Cell 15, 1157 (1978).
Little, P. F. R., Flavell, R. A., Kooter, J. M., Annison, G. & Williamson, R. Nature 278, 227 (1979).
Fritsch, E. F., Lawn, R. M. & Maniatis, T. Nature 279, 598 (1979).
Tuan, D., Biro, A. P., Riel de, J. K., Lazarus, H. & Forget, B. G. Nucleic Acids Res. 6, 2519 (1979).
Bernards, R., Little, P. F. R., Annison, G., Williamson, R. & Flavell, R. A. Proc. natn. Acad. Sci. U.S.A. 76, 4827 (1979).
Chang, J. C. & Kan, Y. W. Proc. natn. Acad. Sci. U.S.A. 76, 2886 (1979).
Flavell, R. A., Bernards, R., Kooter, J. M. & Boer de, E. Nucleic Acids Res. 6, 2749 (1979).
Orkin, S. H., Old, J. M., David, J., Weatherall, D. J. & Nathan, D. G. Proc. natn. Acad. Sci. U.S.A. 76, 2400 (1979).
Ottolenghi, S. et al. Nature 278, 654 (1979).
Bernards, R., Kooter, J. M. & Flavell, R. A. Gene 6, 265 (1979).
Kan, Y. W., Forget, B. G. & Nathan, D. G. New Engl. J. Med. 286, 129 (1972).
Botchan, M., Topp, W. & Sambrook, J. Cell 9, 269 (1976).
Jeffreys, A. J. & Flavell, R. A. Cell 12, 429 (1977).
Little, P. F. R. et al. Nature 273, 640 (1978).
Weissman, C. et al. in From Gene to Protein: Information Transfer in Normal and Abnormal Cells (eds Russell, T. R., Brew, K., Faber, H. & Schultz, J.) Miami Winter Symp. 16, 99–130 (Academic, New York, 1979).
Flavell, R. A. et al. in From Gene to Protein: Information Transfer in Normal and Abnormal Cells (eds Russell, T. R., Brew, K., Faber, H. & Schultz, J.) Miami Winter Symp. 16, 149–164 (Academic, New York, 1979).
Efranov, V. D. et al. J. Lab. clin. Med. 83, 657 (1974).
Singer, K., Chernoff, A. L. & Singer, L. Blood 6, 413 (1951).
Vettore, L., DeMatteis, M. C., Basetto, M. A., Pepe, G. M. Hemoglobin 2, 129 (1978).
Wahl, G. M. et al. Proc. natn. Acad. Sci. U.S.A. 76, 3683 (1979).
Tabak, H. F. & Flavell, R. A. Nucleic Acids Res. 5, 2321 (1978).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Van der Ploeg, L., Konings, A., Oort, M. et al. γ-β-Thalassaemia studies showing that deletion of the γ- and δ-genes influences β-globin gene expression in man. Nature 283, 637–642 (1980). https://doi.org/10.1038/283637a0
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/283637a0
This article is cited by
-
Towards a comprehensive catalogue of validated and target-linked human enhancers
Nature Reviews Genetics (2020)
-
The complex transcription regulatory landscape of our genome: control in three dimensions
The EMBO Journal (2011)
-
Haemoglobin's chaperone
Nature (2002)
-
The molecular basis of T cell differentiation
Immunologic Research (1999)
-
Erythroid transcription factor NF-E2 is a haematopoietic-specific basic–leucine zipper protein
Nature (1993)
Comments
By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.