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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

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 5-methylcytosine (5mC) to yield thymi...

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Bibliografiset tiedot
Päätekijät: Cooper, David N, Mort, Matthew, Stenson, Peter D, Ball, Edward V, Chuzhanova, Nadia A
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2010
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3525222/
https://ncbi.nlm.nih.gov/pubmed/20846930
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1479-7364-4-6-406
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