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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Agammaglobulinaemia Tyrosine Kinase
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Agammaglobulinemia / genetics
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Base Sequence
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DNA Methylation
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Dinucleoside Phosphates / genetics*
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Factor VIII / genetics
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Genes, p53
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Genetic Linkage
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Hemophilia A / genetics
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Molecular Sequence Data
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Mutation*
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Oligodeoxyribonucleotides / genetics
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Phenylalanine Hydroxylase / genetics
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Phenylketonurias / genetics
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Point Mutation
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Protein-Tyrosine Kinases / genetics
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X Chromosome
Substances
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Dinucleoside Phosphates
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Oligodeoxyribonucleotides
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cytidylyl-3'-5'-guanosine
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Factor VIII
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Phenylalanine Hydroxylase
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Protein-Tyrosine Kinases
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Agammaglobulinaemia Tyrosine Kinase
Associated data
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GENBANK/L47800
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GENBANK/X01179
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GENBANK/X02469
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GENBANK/X58957