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

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

<p>Abstract</p> <p>The cytosine-guanine (CpG) dinucleotide has long been known to be a hotspot for pathological mutation in the human genome. This hypermutability is related to its role as the major site of cytosine methylation with the attendant risk of spontaneous deamination of...

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Bibliographic Details
Main Authors: Cooper David N, Mort Matthew, Stenson Peter D, Ball Edward V, Chuzhanova Nadia A
Format: Article
Language:English
Published: BMC 2010-08-01
Series:Human Genomics
Subjects:
CpG dinucleotide
CpNpGp trinucleotide
cytosine methylation
5-methylcytosine deamination
mutation hot-spots
human inherited disease
missense/nonsense mutations
Online Access:http://www.humgenomics.com/content/4/6/406

Internet

http://www.humgenomics.com/content/4/6/406

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