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

Cardoso, Carlos; Mignon, C.; Hetet, Gilles; Grandchamps, Bernard; Fontés, Michel; Colleaux, Laurence

doi:10.1038/sj.ejhg.5200439

Cited by 82 publications

(60 citation statements)

References 22 publications

(19 reference statements)

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“…They corresponded to two groups of proteins. On one hand, I detected the Enhancer of Zeste [E(Z)] proteins of several animal and plant species (Jones and Gelbart 1993;Abel et al 1996;Chen et al 1996;Hobert et al 1996a, b;Goodrich et al 1997;Grossniklaus et al 1998;Holdeman et al 1998;Cardoso et al 2000). They have a long cysteine-rich region known as the ''CXC domain'' (Hobert et al 1996a), which I call more precisely the ''E(Z) CXC domain.''…”

Section: The Second Cysteine-rich Motif In Msl-2 Is a Divergent CXC Dmentioning

confidence: 99%

Evolution of Chromatin-Remodeling Complexes: Comparative Genomics Reveals the Ancient Origin of "Novel" Compensasome Genes

Marı́n

2003

Journal of Molecular Evolution

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Abstract. Dosage compensation in Drosophila is mediated by a complex, called compensasome, composed of at least five proteins and two noncoding RNAs. Genes encoding compensasome proteins have been collectively named male-specific lethals or msls. Recent work showed that three of the Drosophila msls (msl-3, mof, and mle) have an ancient origin. In this study, I describe likely orthologues of the two remaining msls, msl-1 and msl-2, in several invertebrates and vertebrates. The MSL-2 protein is the only one found in Drosophila and vertebrate genomes that contains both a RING finger and a peculiar type of CXC domain, related to the one present in Enhancer of Zeste proteins. MSL-1 also contains two evolutionarily conserved domains: a leucine zipper and a second characteristic region, described here for the first time, which I have called the PEHE domain. These two domains are present in the likely orthologues of MSL-1 as well as in other genes in several invertebrate and vertebrate species. Although it cannot be excluded that the compensasome complex is a recent evolutionary novelty, these results shows that all msls are found in mammals, suggesting that protein complexes related to the compensasome may be present in mammalian species. Metazoans that lack several of the msls, such as Caenorhabditis elegans, cannot contain compensasomes. The evolutionary relationships of the compensasome and the NuA4 complex, another chromatin-remodeling complex that contains related subunits, are discussed.

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Section: The Second Cysteine-rich Motif In Msl-2 Is a Divergent CXC Dmentioning

confidence: 99%

Evolution of Chromatin-Remodeling Complexes: Comparative Genomics Reveals the Ancient Origin of "Novel" Compensasome Genes

Marı́n

2003

Journal of Molecular Evolution

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“…34 EZH2 protein contains several functional domains that are involved in mediating its interaction with other PRC2 and regulatory proteins, besides its histone methyltransferase activity. The major domains include CXC (cysteine-rich domain), SET [Su(var)3-9, enhancer of zeste, trithorax domain], ncRBD (non-coding RNA-binding domain and a DNA binding domain).…”

Section: Introductionmentioning

confidence: 99%

Multifaceted role of EZH2 in breast and prostate tumorigenesis

2013

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“…The enhancer of zeste homolog 2 (EZH2) functions as part of PRC2 by catalyzing the trimethylation of histone H3 at Lysine 27 (H3K27me3) [2]. This mainly results in Polycomb-dependent chromatin compaction and hence gene silencing [3].…”

Section: Introductionmentioning

confidence: 99%

EZH2 Single Nucleotide Variants (SNVs): Diagnostic and Prognostic Role in 10 Solid Tumor Types

et al. 2017

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Abstract:The enhancer of zeste homolog 2 (EZH2) gene encodes a histone methyltransferase that is a catalytic subunit of the Polycomb repressive complex 2 (PRC2) group of proteins that act to repress gene expression. The EZH2 locus is rarely mutated in solid tumors and there is no comprehensive study of EZH2 single nucleotide variants (SNVs) associated with cancer susceptibility, prognosis and response to therapy. Here, for the first time, we review the functional roles of EZH2 DNA variants and propose a putative etiological role in 10 various solid tumors including: esophageal, hepatocellular, oral, urothelial, colorectal, lung and gastric cancers. In particular, we found that the C allele of the EZH2 variant rs3757441 is associated with increased EZH2 RNA expression and poorer prognosis (advanced stage) in at least two malignancies such as colorectal and hepatocellular carcinoma. This suggests that the C allele may be a functional risk variant in multiple malignant tumors. We therefore propose that the rs3757441 single nucleotide variant (SNV) be genotyped and real-time PCR assays be performed in large cohort studies in order to confirm this preliminary finding that could be useful for clinical practice.

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

Cited by 82 publications

References 22 publications

Evolution of Chromatin-Remodeling Complexes: Comparative Genomics Reveals the Ancient Origin of "Novel" Compensasome Genes

Evolution of Chromatin-Remodeling Complexes: Comparative Genomics Reveals the Ancient Origin of "Novel" Compensasome Genes

Multifaceted role of EZH2 in breast and prostate tumorigenesis

EZH2 Single Nucleotide Variants (SNVs): Diagnostic and Prognostic Role in 10 Solid Tumor Types

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