Evidence map›Paper›PMID 20159110›Full record

ArticleAmerican journal of human genetics2010

Allelic skewing of DNA methylation is widespread across the genome.

Leonard C Schalkwyk, Emma L Meaburn, Rebecca Smith, Emma L Dempster, Aaron R Jeffries, Matthew N Davies, Robert Plomin, Jonathan Mill

Open access · bronzeAbstract readTwin Study
In one paragraph

Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 145 papers.

0numbers the graph read from it
0cells of the map it votes in
145citing papers in PubMed
20.8field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

145 citing papers in PubMed, 246 citations in OpenAlex.

  1. Review
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  6. Epigenomic insights into common human disease pathology.Cellular and molecular life sciences : CMLS · 2024
    Review
  7. The methylation profile ofFrontiers in immunology · 2023
    Article
  8. Article
  9. Review
  10. Article
  11. Article
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85 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 1 institution in 1 country.

Leonard C SchalkwykMRC SGDP Research Centre, Institute of Psychiatry, King's College London, London, UK.
Emma L Meaburn
Rebecca Smith
Emma L Dempster
Aaron R Jeffries
Matthew N Davies
Robert Plomin
Jonathan Mill
King's College London · GB

Funding

Medical Research Council G0500079Medical Research Council G19/2
6 · The paper itself

Abstract

DNA methylation is assumed to be complementary on both alleles across the genome, although there are exceptions, notably in regions subject to genomic imprinting. We present a genome-wide survey of the degree of allelic skewing of DNA methylation with the aim of identifying previously unreported differentially methylated regions (DMRs) associated primarily with genomic imprinting or DNA sequence variation acting in cis. We used SNP microarrays to quantitatively assess allele-specific DNA methylation (ASM) in amplicons covering 7.6% of the human genome following cleavage with a cocktail of methylation-sensitive restriction enzymes (MSREs). Selected findings were verified using bisulfite-mapping and gene-expression analyses, subsequently tested in a second tissue from the same individuals, and replicated in DNA obtained from 30 parent-child trios. Our approach detected clear examples of ASM in the vicinity of known imprinted loci, highlighting the validity of the method. In total, 2,704 (1.5%) of our 183,605 informative and stringently filtered SNPs demonstrate an average relative allele score (RAS) change > or =0.10 following MSRE digestion. In agreement with previous reports, the majority of ASM ( approximately 90%) appears to be cis in nature, and several examples of tissue-specific ASM were identified. Our data show that ASM is a widespread phenomenon, with >35,000 such sites potentially occurring across the genome, and that a spectrum of ASM is likely, with heterogeneity between individuals and across tissues. These findings impact our understanding about the origin of individual phenotypic differences and have implications for genetic studies of complex disease.

Indexed as

AllelesDNA MethylationFemaleGene Expression RegulationGenetic LociGenome, HumanGenomic ImprintingHumansIntronsMaleOligonucleotide Array Sequence AnalysisOrgan SpecificityPolymorphism, Single NucleotidePromoter Regions, GeneticReproducibility of ResultssnRNP Core ProteinssnRNP Core ProteinsSNRPN protein, human

Identifiers

PMID20159110
PMCPMC2820163
OpenAlexW2015544188

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.