Nature Genetics
14, 25 - 32 (1996)
doi:10.1038/ng0996-25
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genesDominique Stickens1, *, Gregory Clines1, *, David Burbee1, 3, Purita Ramos1, Sylvia Thomas1, Deborah Hogue4, Jacqueline T. Hecht4, Michael Lovett1, 3
& Glen A. Evans1, 2, 3, 5
1McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas 5323 Harry Mines Blvd. Dallas, Texas 75235-8591, USA
2Departmentof Internal Medicine, University of Texas Southwestern Medical Center at Dallas 5323 Harry Mines Blvd. Dallas, Texas 75235-8591, USA
3Biochemistry, University of Texas Southwestern Medical Center at Dallas 5323 Harry Mines Blvd. Dallas, Texas 75235-8591, USA
4Department of Pediatrics University of Texas Medical School at Houston P.O. Box 20708 Houston, Texas 77225, USA
*D.S. & G.C. contributed equally to this work.
5e-mail: gevans@utsw.swmed.edu 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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