Sequence specificity in CpG mutation hotspots

FEBS Letters

Vihinen, Mauno¹  Lappalainen, Ilkka¹  Ollila, Juha¹ 

[1] Department of Biosciences, Division of Biochemistry, P. O. Box 56, FIN-00014 University of Helsinki, Helsinki, Finland

关键词: CpG dinucleotide;    CpG suppression;    DNA methylation;    Human mutation database;   

DOI  :  10.1016/0014-5793(96)01075-7

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

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.

【 授权许可】

Unknown