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Review Article: Implication Of Abnormal Epigenetic Patterns For Human Diseases

  December, 21 2006 1:12
your information resource in human molecular genetics
Implication Of Abnormal Epigenetic Patterns For Human Diseases

Published in European Journal of Human Genetics (2007) 15, 10–17.

C. B. Santos-Reboucas and M. M. G. Pimentel
Department of Cell Biology and Genetics, State University of Rio de Janeiro, Rio de Janeiro, Brazil


Significant evidences have brought new insights on the mechanisms by which epigenetic machinery proteins regulate gene expression, leading to a redefinition of chromatin regulation in terms of modification of core histones, DNA methylation, RNA-mediated silencing pathways, action of methylation-dependent sensitive insulators and Polycomb/Trithorax group proteins. Consistent with these fundamental aspects, an increasing number of human pathologies have been found to be associated with aberrant epigenetics regulation, including cancer, mental retardation, neurodegenerative symptoms, imprinting disorders, syndromes involving chromosomal instabilities and a great number of human life-threatening diseases. The possibility of reversing epigenetic marks, in contrast to genetic code, may provide new pharmacological targets for emerging therapeutic intervention.


Professor C. B. Santos-Rebouças, Departamento de Biologia Celular e Genética, Serviço de Genética Humana, Universidade do Estado do Rio de Janeiro Instituto de Biologia Roberto Alcântara Gomes, Rua São Francisco Xavier, 524, PHLC – sala 500, Maracanã 20550-013. Rio de Janeiro, RJ, Brazil. E-mail: cbs@uerj.br

Full article available online.

(C) European Journal of Human Genetics.

Posted by: Tressie Dalaya.

Message posted by: Trevor M. D'Souza

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