Abstract
The fragile site FRA11B has been localized to the p(CCG)n repeat of the CBL2 proto-oncogene. A proportion of Jacobsen (11q−) syndrome patients inherited a chromosome carrying a CBL2 p(CCG)n expansion, which was truncated close to FRA11B. These results have broad implications for the role of p(CCG)n repeat expansion in the aetiology of genetic disease involving chromosome rearrangements.
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
Rent or buy this article
Prices vary by article type
from$1.95
to$39.95
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Sutherland, G. R. & Hecht, F. Fragile Sites On Human Chromosomes (Oxford Univ. Press, Oxford, 1985).
Warren, S. T., Zhang, F., Licameli, G. R. & Peters, J. F. Science 237, 420–423 (1987).
Yu, S. et al. Science 252, 1179–1182 (1991).
Verkerk, A. J. M. H. et al. Cell 65, 905–914 (1991).
Kremer, E. J. et al. Science 252, 1711–1714 (1991).
Fu, Y.-H. et al. Cell 67, 1047–1058 (1991).
Knight, S. J. et al. Cell 74, 127–134 (1993).
Parrish, J. E. et al. Nature Genet. 8, 229–235 (1994).
Nancarrow, J. K. et al. Science 264, 1938–1941 (1994).
Giraud, F., Aymè, S., Mattei, J. F. & Mattei, M. G. Hum. Genet. 34, 125–136 (1976).
Harvey, J., Judge, C. & Wiener, S. J. med. Genet. 14, 46–50 (1977).
Brown, W. T. & Jenkins, E. C. Molec. Genet. Med. 2, 39–66 (1992).
Flynn, G. A. et al. J. med. Genet. 30, 97–100 (1993).
Mulley, J. C. et al. J. med. Genet. 32, 162–169 (1995).
Bell, M. V. et al. Cell 64, 861–866 (1991).
Oberle, I. et al. Science 252, 1097–1102 (1991).
Vincent, A. et al. Nature 349, 624–626 (1991).
Pieretti, M. et al. Cell 66, 817–822 (1991).
Devys, D., Lutz, Y., Rouyer, N., Bellocq, J. P. & Mandel, J. L. Nature Genet. 4, 335–340 (1993).
Richards, R. I. & Sutherland, G. R. Cell 70, 709–712 (1992).
Blake, T. J., Shapiro, M., Morse, H. C. & Langdon, W. Y. Oncogene 6, 653–657 (1991).
Savage, P. D. et al. Cytogenet. cell. Genet. 56, 112–115 (1991).
Tunnacliffe, A. & McGuire, R. S. Genomics 8, 447–453 (1990).
Sutherland, G. R., Jacky, P. B., Baker, E. & Manuel, A. Am. J. hum. Genet. 35, 432–437 (1983).
Jones, C. et al. Hum. molec. Genet. 3, 2123–2130 (1994).
Voullaire, L. E., Webb, G. C. & Leversha, M. A. Hum. Genet. 76, 202–204 (1987).
Rousseau, F. et al. New Engl. J. Med. 325, 1673–1681 (1991).
Jacobsen, P. et al. Hum. Hered. 23, 568–585 (1973).
Schinzel, A., auf der Maur, P. & Moser, H. J. med. Genet. 14, 438–444 (1977).
Penny, L. A. et al. Am. J. hum. Genet. 56, 676–683 (1995).
Hummerich, H. et al. Hum. molec. Genet. 3, 73–78 (1994).
Willems, P. J. Nature Genet. 8, 213–215 (1994).
Warren, S. T. et al. Proc. natn. Acad. Sci. U.S.A. 87, 3856–3860 (1990).
Donovan, J. A., Wange, R. L., Langdon, W. Y. & Samelson, L. E. J. biol. Chem. 269, 22921–22924 (1994).
Andoniou, C. E., Thien, C. B. F. & Langdon, W. Y. EMBO J. 13, 4515–4523 (1994).
Knudson, A. G. Adv. Cancer Res. 17, 317–324 (1973).
Yunis, J. J. Science 221, 227–236 (1983).
Fishel, R. et al. Cell 75, 1027–1038 (1993).
Leach, F. S. et al. Cell 75, 1215–1225 (1993).
Bronner, C. E. et al. Nature 368, 258–261 (1994).
Papadopoulos, N. et al. Science 263, 1625–1629 (1994).
Thibodeau, S. N., Bren, G. & Schaid, D. Science 260, 816–819 (1993).
Peltomäki, P. et al. Cancer Res. 53, 5853–5855 (1993).
Mao, L. et al. Proc. natn. Acad. Sci. U.S.A. 91, 9871–9875 (1994).
Gyapay, G. et al. Nat. Genet. 7, 246–339 (1994).
Sambrook, J., Fritsch, E. F. & Maniatis, T. Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory, Cold Spring Harbor, 1989).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Jones, C., Penny, L., Mattina, T. et al. Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. Nature 376, 145–149 (1995). https://doi.org/10.1038/376145a0
Issue Date:
DOI: https://doi.org/10.1038/376145a0
This article is cited by
-
Molecular mechanisms underlying nucleotide repeat expansion disorders
Nature Reviews Molecular Cell Biology (2021)
-
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
Scientific Reports (2021)
-
Exploring the Potential of Small Molecule-Based Therapeutic Approaches for Targeting Trinucleotide Repeat Disorders
Molecular Neurobiology (2020)
-
Functional repetitive sequences and fragile sites in chromosomes of Lolium perenne L.
Protoplasma (2015)
-
Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3 → q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization
Molecular Cytogenetics (2014)
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.