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Sequence specificity in CpG mutation hotspots

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Author

Summary, in English

CpG dinucleotides are efficiently methylated in vertebrate genomes except in the CpG islands having a high C+G content. Methylated CpGs are the single most mutated dinucleotide. Sequences surrounding disease causing CpG mutation sites were analyzed from locus-specific mutation databases. Both tetra- and heptanucleotide analyses indicated clear overall sequence preference for having pyrimidines 5' and purines 3' to the mutated 5-methylcytosine. The most mutated tetranucleotides are TCGA and TCGG, the former being also a frequent restriction and modification site. The results will help in elucidating the still controversial mutation mechanism of CpG doublets.

Publishing year

1996

Language

English

Pages

119-122

Publication/Series

FEBS Letters

Volume

396

Issue

2-3

Document type

Journal article

Publisher

Wiley-Blackwell

Topic

  • Biological Sciences

Keywords

  • CpG dinucleotide
  • CpG suppression
  • DNA methylation
  • human mutation
  • database

Status

Published

ISBN/ISSN/Other

  • ISSN: 1873-3468