Get access

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

Authors

  • Maria Irene Scarano,

    Corresponding author
    1. Department of Biomorphological and Functional Sciences, University of Naples “Federico II”, Naples, Italy
    2. Sbarro Institute for Cancer Research and Molecular Medicine, Center for Biotechnology, College of Sciences and Technology, Temple University, Philadelphia, Pennsylvania
    • Department of Biomorphological and Functional Sciences, University of Naples “Federico II”, via S. Pansini 5, 80131 Naples, Italy.
    Search for more papers by this author
  • Maria Strazzullo,

    1. Institute of Genetics and Biophysics “A. Buzzati Traverso” via Marconi, Naples, Italy
    2. Biogem S.C.A.R.L., Ariano Irpino, Italy
    Search for more papers by this author
  • Maria Rosaria Matarazzo,

    1. Institute of Genetics and Biophysics “A. Buzzati Traverso” via Marconi, Naples, Italy
    Search for more papers by this author
  • Maurizio D'Esposito

    Corresponding author
    1. Institute of Genetics and Biophysics “A. Buzzati Traverso” via Marconi, Naples, Italy
    • Institute of Genetics and Biophysics “A. Buzzati Traverso” via Marconi 10, 80125 Naples, Italy.
    Search for more papers by this author

  • This manuscript is dedicated to the memory of Prof. Eduardo Scarano, who actively worked at LIGB in Naples, until his untimely death in 1986. He was one of the first scientists to hypothesize that DNA methylation would have a profound effect on gene expression. We recognize his scientific legacy.

Abstract

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.

Ancillary