The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders (original) (raw)

European Journal of Human Genetics volume 8, pages 174–180 (2000)Cite this article

Abstract

The EZH2 gene is a homolog of the Drosophila Polycomb group (PcG) gene enhancer of zest, a crucial regulator of homeotic gene expression. Several lines of evidence suggest a critical role for the EZH2 protein during normal and perturbed development of the haematopoietic and central nervous systems. Indeed, the EZH2 protein has been shown to associate with the Vav proto-oncoprotein and with the XNP protein, the product of a mental retardation gene. The EZH2 gene was previously reported to be located on chromosome 21q22 and was proposed as a candidate gene for some characteristics of the Down syndrome phenotype. We report here the genomic structure and fine mapping of the EZH2 gene. We demonstrate that the functional gene actually maps to chromosome 7q35 and that the sequence previously isolated from a chromosome 21 cosmid corresponds to a pseudogene. Finally, the nature of the EZH2 protein and its mapping to the critical region for malignant myeloid disorders lead us to propose the EZH2 gene is involved in the pathogenesis of 7q35–q36 aberrations in myeloid leukaemia.

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Authors and Affiliations

  1. INSERM U491, Faculté de Médecine de la Timone, Marseille, France
    Carlos Cardoso, Cecile Mignon, Michel Fontes & Laurence Colleaux
  2. INSERM U409 and Centre de Recherche Claude Bernard, Faculté de Médecine Xavier Bichat, Paris, France
    Gilles Hetet & Bernard Grandchamps

Authors

  1. Carlos Cardoso
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  2. Cecile Mignon
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  3. Gilles Hetet
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  4. Bernard Grandchamps
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  5. Michel Fontes
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  6. Laurence Colleaux
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Correspondence toLaurence Colleaux.

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Cardoso, C., Mignon, C., Hetet, G. et al. The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders.Eur J Hum Genet 8, 174–180 (2000). https://doi.org/10.1038/sj.ejhg.5200439

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