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Titolo:
The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders
Autore:
Cardoso, C; Mignon, C; Hetet, G; Grandchamps, B; Fontes, M; Colleaux, L;
Indirizzi:
Fac Med Timone, INSERM U491, F-13005 Marseille, France Fac Med Timone Marseille France F-13005 U491, F-13005 Marseille, France Fac Med Xavier Bichat, INSERM U409, Paris, France Fac Med Xavier Bichat Paris France r Bichat, INSERM U409, Paris, France Fac Med Xavier Bichat, Ctr Rech Claude Bernard, Paris, France Fac Med Xavier Bichat Paris France r Rech Claude Bernard, Paris, France
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 3, volume: 8, anno: 2000,
pagine: 174 - 180
SICI:
1018-4813(200003)8:3<174:THEGGO>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
ACUTE LYMPHOBLASTIC-LEUKEMIA; POLYCOMB-GROUP; SET DOMAIN; EXPRESSION; TRITHORAX; HETEROCHROMATIN; TRANSLOCATIONS; HYBRIDIZATION; PROTEINS; ENHANCER;
Keywords:
EZH2; genomic structure; 7q35; pseudogene; malignant myeloid disorders;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Colleaux, L Fac Med Timone, INSERM U491, 27 Bd Jean Moulin, F-13005 Marseille, France Fac Med Timone 27 Bd Jean Moulin Marseille France F-13005 nce
Citazione:
C. Cardoso et al., "The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders", EUR J HUM G, 8(3), 2000, pp. 174-180

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 ofthe 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-q36aberrations in myeloid leukaemia.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 08:15:29