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The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes

Nature Genetics volume 14, pages 25–32 (1996)Cite this article

Abstract

Hereditary multiple exostoses (EXT) is an autosomal dominant condition characterized by short stature and the development of bony protuberances at the ends of all the long bones. Three genetic loci have been identified by genetic linkage analysis at chromosomes 8q24.1, 11p11–13 and 19p. The EXT1 gene on chromosome 8 was recently identified and characterized. Here, we report the isolation and characterization of the EXT2 gene. This gene shows striking sequence similarity to the EXT1 gene, and we have identified a four base deletion segregating with the phenotype. Both EXT1 and EXT2 show significant homology with one additional expressed sequence tag, defining a new multigene family of proteins with potential tumour suppressor activity.

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Author notes

  1. Dominique Stickens and Gregory Clines: D.S. & G.C. contributed equally to this work.

Authors and Affiliations

  1. McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, 5323 Harry Mines Blvd., Dallas, Texas, 75235-8591, USA

    Dominique Stickens, Gregory Clines, David Burbee, Purita Ramos, Sylvia Thomas, Michael Lovett & Glen A. Evans

  2. Departmentof Internal Medicine, University of Texas Southwestern Medical Center at Dallas, 5323 Harry Mines Blvd., Dallas, Texas, 75235-8591, USA

    Glen A. Evans

  3. Biochemistry, University of Texas Southwestern Medical Center at Dallas, 5323 Harry Mines Blvd., Dallas, Texas, 75235-8591, USA

    David Burbee, Michael Lovett & Glen A. Evans

  4. Department of Pediatrics University of Texas Medical School at Houston, P.O. Box 20708, Houston, Texas, 77225, USA

    Deborah Hogue & Jacqueline T. Hecht

Authors
  1. Dominique Stickens
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  2. Gregory Clines
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  3. David Burbee
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  4. Purita Ramos
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  5. Sylvia Thomas
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  6. Deborah Hogue
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  7. Jacqueline T. Hecht
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  8. Michael Lovett
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  9. Glen A. Evans
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Corresponding author

Correspondence to Glen A. Evans.

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Stickens, D., Clines, G., Burbee, D. et al. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet 14, 25–32 (1996). https://doi.org/10.1038/ng0996-25

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