The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders (original) (raw)
- Article
- Published: 17 May 2000
- Cecile Mignon1,
- Gilles Hetet2,
- Bernard Grandchamps2,
- Michel Fontes1 &
- …
- Laurence Colleaux1
European Journal of Human Genetics volume 8, pages 174–180 (2000)Cite this article
- 1718 Accesses
- 77 Citations
- 9 Altmetric
- Metrics details
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.
Similar content being viewed by others
Down syndrome
Article 06 February 2020
Article PDF
Author information
Authors and Affiliations
- INSERM U491, Faculté de Médecine de la Timone, Marseille, France
Carlos Cardoso, Cecile Mignon, Michel Fontes & Laurence Colleaux - INSERM U409 and Centre de Recherche Claude Bernard, Faculté de Médecine Xavier Bichat, Paris, France
Gilles Hetet & Bernard Grandchamps
Authors
- Carlos Cardoso
You can also search for this author inPubMed Google Scholar - Cecile Mignon
You can also search for this author inPubMed Google Scholar - Gilles Hetet
You can also search for this author inPubMed Google Scholar - Bernard Grandchamps
You can also search for this author inPubMed Google Scholar - Michel Fontes
You can also search for this author inPubMed Google Scholar - Laurence Colleaux
You can also search for this author inPubMed Google Scholar
Corresponding author
Correspondence toLaurence Colleaux.
Rights and permissions
About this article
Cite this article
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
- Received: 04 June 1999
- Revised: 09 August 1999
- Accepted: 06 October 1999
- Published: 17 May 2000
- Issue Date: 01 March 2000
- DOI: https://doi.org/10.1038/sj.ejhg.5200439
Keywords
This article is cited by
EZH2 regulates pancreatic cancer cells through E2F1, GLI1, CDK3, and Mcm4
- Hongfeng Li
- Hailong Wang
- Pengfei Liu
Hereditas (2023)
The long and short non-coding RNAs modulating EZH2 signaling in cancer
- Sepideh Mirzaei
- Mohammad Hossein Gholami
- Alan Prem Kumar
Journal of Hematology & Oncology (2022)
Molecular mechanisms of neuroendocrine differentiation in prostate cancer progression
- Yuchen Xie
- Songyi Ning
- Jianpeng Hu
Journal of Cancer Research and Clinical Oncology (2022)
EZH2: a novel target for cancer treatment
- Ran Duan
- Wenfang Du
- Weijian Guo
Journal of Hematology & Oncology (2020)
Down syndrome: from the age of characterization to the era of curative approach
- Bani Bandana Ganguly
- Nitin N. Kadam
The Nucleus (2017)