DNA methylation 40 years later: Its role in human health and disease

A long path, initiated more than 40 years ago, has led to a deeper understanding of the complexity of gene regulation in eukaryotic genomes. In addition to genetic mechanisms, the imbalance in the epigenetic control of gene expression may profoundly alter the finely tuned machinery leading to gene r...

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Bibliographic Details
Published in:Journal of cellular physiology 2005-07, Vol.204 (1), p.21-35
Main Authors: Scarano, Maria Irene, Strazzullo, Maria, Matarazzo, Maria Rosaria, D'Esposito, Maurizio
Format: Article
Language:English
Subjects:
DNA Methylation
Dosage Compensation, Genetic
Epigenesis, Genetic - physiology
Genetic Diseases, Inborn - genetics
Genetic Diseases, Inborn - metabolism
Genomic Imprinting - genetics
Humans
Neoplasms - genetics
Neoplasms - physiopathology
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Summary:A long path, initiated more than 40 years ago, has led to a deeper understanding of the complexity of gene regulation in eukaryotic genomes. In addition to genetic mechanisms, the imbalance in the epigenetic control of gene expression may profoundly alter the finely tuned machinery leading to gene regulation. Here, we review the impact of the studies on DNA methylation, the “primadonna” in the epigenetic scenario, on the understanding of basic phenomena, such as X inactivation and genomic imprinting. The effect of deregulation of DNA methylation on human health, will be also discussed. Finally, an attempt to predict future directions of this rapidly evolving field has been proposed, with the certainty that, fortunately, science is always better than predictions. © 2005 Wiley‐Liss, Inc.
ISSN:0021-9541
1097-4652
DOI:10.1002/jcp.20280