(Q41840341)

English

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

scientific article published on August 2010

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scholarly article

1 reference

Europe PubMed Central

13 October 2017

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 (English)

1 reference

Europe PubMed Central

13 October 2017

David N. Cooper

1

1 reference

Europe PubMed Central

13 October 2017

2

object named as

Matthew Mort

1 reference

Europe PubMed Central

13 October 2017

author name string

Peter D Stenson

3

1 reference

Europe PubMed Central

13 October 2017

Edward V Ball

4

1 reference

Europe PubMed Central

13 October 2017

Nadia A Chuzhanova

5

1 reference

Europe PubMed Central

13 October 2017

publication date

1 August 2010

1 reference

Europe PubMed Central

13 October 2017

1 reference

Europe PubMed Central

13 October 2017

4

1 reference

Europe PubMed Central

13 October 2017

406-410

1 reference

Europe PubMed Central

13 October 2017

6

1 reference

Europe PubMed Central

13 October 2017

https://scigraph.springernature.com/pub.10.1186/1479-7364-4-6-406

0 references

Presence of 5-methylcytosine in CpNpG trinucleotides in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Dynamic changes in the human methylome during differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Human DNA methylomes at base resolution show widespread epigenomic differences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Multiplex padlock targeted sequencing reveals human hypermutable CpG variations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

CpG islands--'a rough guide'.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

The Human Gene Mutation Database: 2008 update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Mutations of different molecular origins exhibit contrasting patterns of regional substitution rate variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Characterization of Dnmt3b:thymine-DNA glycosylase interaction and stimulation of thymine glycosylase-mediated repair by DNA methyltransferase(s) and RNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Directionality of point mutation and 5-methylcytosine deamination rates in the chimpanzee genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

The enigmatic thymine DNA glycosylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Cytosine methylation and DNA repair

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

https://api.crossref.org/works/10.1186%2F1479-7364-4-6-406

21 January 2018

Mutagenesis at methylated CpG sequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Effects of methylation of non-CpG sequence in the promoter region on the expression of human synaptotagmin XI (syt11).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Estimate of the mutation rate per nucleotide in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Thymine-DNA glycosylase and G to A transition mutations at CpG sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

The thymine glycosylase MBD4 can bind to the product of deamination at methylated CpG sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Sp1 binding is inhibited by (m)Cp(m)CpG methylation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

The rate of hydrolytic deamination of 5-methylcytosine in double-stranded DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Effect of DNA cytosine methylation upon deamination-induced mutagenesis in a natural target sequence in duplex DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

CpNpG methylation in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

The CpG dinucleotide and human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

High frequency mutagenesis by a DNA methyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

6 June 2018

Evaluation of the effect of CpG hypermutability on human codon substitution.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

18 August 2018

A meta-analysis of nonsense mutations causing human genetic disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

18 August 2018

CpG/CpNpG motifs in the coding region are preferred sites for mutagenesis in the breast cancer susceptibility genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

18 August 2018

Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

18 August 2018

Sequence context at human single nucleotide polymorphisms: overrepresentation of CpG dinucleotide at polymorphic sites and suppression of variation in CpG islands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

18 August 2018

CpG dinucleotides are mutation hot spots in phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

18 August 2018

5-Methylcytosine as an Endogenous Mutagen in the Human LDL Receptor and p53 Genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525222

18 August 2018

The majority of methylated deoxycytidines in human DNA are not in the CpG dinucleotide

1 reference

https://pubmed.ncbi.nlm.nih.gov/20846930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/20846930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the neurofibromatosis type 1 (NF1) tumour-suppressor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/20846930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transition mutations at CpG dinucleotides are the most frequent in vivo spontaneous single-based substitution mutation in the human HPRT gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/20846930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1479-7364-4-6-406

1 reference

Europe PubMed Central

13 October 2017

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0 references

release_drsm6cp3tre7xofgpilgysw6ke

1 reference

https://api.fatcat.wiki/v0/release/drsm6cp3tre7xofgpilgysw6ke

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

13 October 2017

1 reference

Europe PubMed Central

13 October 2017

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