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Sequence specificity in CpG mutation hotspots

Ollila, J; Lappalainen, I and Vihinen, Mauno LU (1996) In FEBS Letters 396(2-3). p.119-122
Abstract
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.
Please use this url to cite or link to this publication:
author
publishing date
type
Contribution to journal
publication status
published
subject
keywords
CpG dinucleotide, CpG suppression, DNA methylation, human mutation, database
in
FEBS Letters
volume
396
issue
2-3
pages
119 - 122
publisher
Wiley-Blackwell
external identifiers
  • wos:A1996VT12700002
  • scopus:0030569351
ISSN
1873-3468
DOI
10.1016/0014-5793(96)01075-7
language
English
LU publication?
no
id
8a871ad9-3cfb-40a8-960e-93f81985902a (old id 3852924)
date added to LUP
2013-06-28 14:33:46
date last changed
2017-08-13 04:18:52
@article{8a871ad9-3cfb-40a8-960e-93f81985902a,
  abstract     = {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.},
  author       = {Ollila, J and Lappalainen, I and Vihinen, Mauno},
  issn         = {1873-3468},
  keyword      = {CpG dinucleotide,CpG suppression,DNA methylation,human mutation,database},
  language     = {eng},
  number       = {2-3},
  pages        = {119--122},
  publisher    = {Wiley-Blackwell},
  series       = {FEBS Letters},
  title        = {Sequence specificity in CpG mutation hotspots},
  url          = {http://dx.doi.org/10.1016/0014-5793(96)01075-7},
  volume       = {396},
  year         = {1996},
}