Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

Human Genomics

Volumn 4, Issue 6, 2010, Pages 406-410

  Cooper, David N ^a   Mort, Matthew ^a   Stenson, Peter D ^a   Ball, Edward V ^a   Chuzhanova, Nadia A ^b  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b NOTTINGHAM TRENT UNIVERSITY   (United Kingdom)

Author keywords

5 methylcytosine deamination; CpG dinucleotide; CpNpGp trinucleotide; cytosine methylation; human inherited disease; missense nonsense mutations; mutation hotspots

Indexed keywords

5 METHYLCYTOSINE; CPG OLIGODEOXYNUCLEOTIDE; THYMINE;

ARTICLE; DEAMINATION; DNA METHYLATION; GENE MUTATION; GENE REPLICATION; GENETIC DISORDER; GERMLINE MICRONUCLEUS; HUMAN GENOME; MISSENSE MUTATION; NONSENSE MUTATION;

EID: 85027932742     PISSN: 14739542     EISSN: 14797364     Source Type: Journal    
DOI: 10.1186/1479-7364-4-6-406     Document Type: Article

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