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Sequence specificity in CpG mutation hotspots

In English

Författare

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.

Publiceringsår

1996

Språk

Engelska

Sidor

119-122

Publikation/Tidskrift/Serie

FEBS Letters

Volym

396

Issue

2-3

Dokumenttyp

Artikel i tidskrift

Förlag

Wiley-Blackwell

Ämne

  • Biological Sciences

Nyckelord

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

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 1873-3468