Abstract
Recently, two homologous genes, EXT1 and EXT2, with a putative tumor suppressor function have been described. Mutations in both genes are responsible for multiple exostosis syndrome (EXT), an autosomal dominant condition characterized by the presence of multiple osteochondromas, bony excrescences that sometimes undergo malignant transformation to chondrosarcoma. This family of EXT genes has been extended by the identification of an EXT-like (EXTL) gene showing a high degree of homology with the EXT genes. We report here a second EXT-like gene (EXTL2) which is homologous to the EXT and EXTL genes. EXTL2 consists of 5 exons encoding an ubiquitously expressed protein of 330 amino acids. In addition, a putative pseudogene, EXTL2P was also identified. The EXTL2 gene was assigned to chromosome 1p11–p12, whereas EXTL2P was mapped on chromosome 2q24–q31.
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Acknowledgments
This research is partly supported by an NFWO grant to W. Van Hul and Concerted Action to P.J. Willems. W. Wuyts is an aspirant of the IWT (Vlaams Instituut voor de bevordering van het Wetenschappelijk-Technologisch onderzoek in de industrie). We are indebted to Eugene Koonin for assistance with database searches.
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Wuyts, W., Van Hul, W., Hendrickx, J. et al. Identification and Characterization of a Novel Member of the EXT Gene Family, EXTL2. Eur J Hum Genet 5, 382–389 (1997). https://doi.org/10.1007/BF03405947
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DOI: https://doi.org/10.1007/BF03405947
