Evidence map›Paper›PMID 16773567›Full record

ArticleAmerican journal of human genetics2006

Intra- and interindividual epigenetic variation in human germ cells.

James M Flanagan, Violeta Popendikyte, Natalija Pozdniakovaite, Martha Sobolev, Abbas Assadzadeh, Axel Schumacher, Masood Zangeneh, Lynette Lau, Carl Virtanen, Sun-Chong Wang and 1 more

Abstract read
In one paragraph

Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
104citing papers in PubMed, 3 pooled it
–field-weighted citation impact
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

104 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
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  20. The Epigenetic Basis of Individuality.Current opinion in behavioral sciences · 2019
    Article

44 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

11 authors.

James M FlanaganThe Krembil Family Epigenetics Laboratory, Centre for Addiction and Mental Health, Toronto, ON, Canada.
Violeta Popendikyte
Natalija Pozdniakovaite
Martha Sobolev
Abbas Assadzadeh
Axel Schumacher
Masood Zangeneh
Lynette Lau
Carl Virtanen
Sun-Chong Wang
Arturas Petronis

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Epigenetics represents a secondary inheritance system that has been poorly investigated in human biology. The objective of this study was to perform a comprehensive analysis of DNA methylation variation between and within the germlines of normal males. First, methylated cytosines were mapped using bisulphite modification-based sequencing in the promoter regions of the following disease genes: presenilins (PSEN1 and PSEN2), breast cancer (BRCA1 and BRCA2), myotonic dystrophy (DM1), and Huntington disease (HD). Major epigenetic variation was detected within samples, since the majority of sperm cells of the same individual exhibited unique DNA methylation profiles. In the interindividual analysis, 41 of 61 pairwise comparisons revealed distinct DNA methylation profiles (P=.036 to 6.8 x 10(-14)). Second, a microarray-based epigenetic profiling of the same sperm samples was performed using a 12,198-feature CpG island microarray. The microarray analysis has identified numerous DNA methylation-variable positions in the germ cell genome. The largest degree of variation was detected within the promoter CpG islands and pericentromeric satellites among the single-copy DNA fragments and repetitive elements, respectively. A number of genes, such as EED, CTNNA2, CALM1, CDH13, and STMN2, exhibited age-related DNA methylation changes. Finally, allele-specific methylation patterns in CDH13 were detected. This study provides evidence for significant epigenetic variability in human germ cells, which warrants further research to determine whether such epigenetic patterns can be efficiently transmitted across generations and what impact inherited epigenetic individuality may have on phenotypic outcomes in health and disease.

Indexed as

Epigenesis, GeneticConfounding Factors, EpidemiologicCpG IslandsDNA MethylationGerm CellsHumansOligonucleotide Array Sequence AnalysisPromoter Regions, Genetic

Identifiers

PMID16773567
PMCPMC1474120

What OpenQuestion holds

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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.