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CpG Dinucleotides and Human Disorders

  1. Stylianos E Antonarakis

Published Online: 27 JAN 2006

DOI: 10.1038/npg.els.0005497

eLS

eLS

How to Cite

Antonarakis, S. E. 2006. CpG Dinucleotides and Human Disorders. eLS. .

Author Information

  1. University of Geneva Medical School, Geneva, Switzerland

Publication History

  1. Published Online: 27 JAN 2006

Abstract

Analysis of the mutation spectra of single nucleotide substitutions associated with monogenic disorders strongly suggests that CG to TG mutations are among the most frequent causes of human genetic disease phenotypes. This is probably due to the mechanism of methylation–deamination of cytosine. In addition, this substitution mechanism results in a substantial fraction of the polymorphic variability of the human genome.

Keywords:

  • mutation;
  • genetic disease;
  • X-linked;
  • methylation;
  • deamination;
  • single nucleotide polymorphism;
  • missense;
  • nonsense;
  • hypermutability