CpG Dinucleotides and Human Disorders
Published Online: 27 JAN 2006
Copyright © 2001 John Wiley & Sons, Ltd. All rights reserved.
How to Cite
Antonarakis, S. E. 2006. CpG Dinucleotides and Human Disorders. eLS. .
- Published Online: 27 JAN 2006
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.
- genetic disease;
- single nucleotide polymorphism;