Evidence map›Paper›PMID 24923327›Full record

ArticleGenome biology and evolution2014

Evolutionary origin and methylation status of human intronic CpG islands that are not present in mouse.

Katrin Rademacher, Christopher Schröder, Deniz Kanber, Ludger Klein-Hitpass, Stefan Wallner, Michael Zeschnigk, Bernhard Horsthemke

Open access · goldAbstract readComparative Study
In one paragraph

Article in Genome biology and evolution, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.3field-weighted citation impact, top 20% 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

13 citing papers in PubMed, 19 citations in OpenAlex.

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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

7 authors at 3 institutions in 1 country.

Katrin RademacherInstitut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Christopher SchröderGenominformatik, Institut für Humangenetik, Medizinische Fakultät, Universität Duisburg-Essen, Essen, Germany.
Deniz KanberInstitut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Ludger Klein-HitpassBioChip Labor, Institut für Zellbiologie, Medizinische Fakultät, Universität Duisburg-Essen, Essen, Germany.
Stefan WallnerInstitut für Klinische Chemie und Laboratoriumsmedizin, Universitätsklinikum Regensburg, Universität Regensburg, Germany.
Michael ZeschnigkInstitut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Bernhard HorsthemkeInstitut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany bernhard.horsthemke@uni-due.de.
University of Duisburg-Essen · DEEssen University Hospital · DEUniversity Hospital Regensburg · DE

Funding

NIGMS NIH HHS Y01 GM001114
6 · The paper itself

Abstract

Imprinting of the human RB1 gene is due to the presence of a differentially methylated CpG island (CGI) in intron 2, which is part of a retrocopy derived from the PPP1R26 gene on chromosome 9. The murine Rb1 gene does not have this retrocopy and is not imprinted. We have investigated whether the RB1/Rb1 locus is unique with respect to these differences. For this, we have compared the CGIs from human and mouse by in silico analyses. We have found that the human genome does not only contain more CGIs than the mouse, but the proportion of intronic CGIs is also higher (7.7% vs. 3.5%). At least 2,033 human intronic CGIs are not present in the mouse. Among these CGIs, 104 show sequence similarities elsewhere in the human genome, which suggests that they arose from retrotransposition. We could narrow down the time points when most of these CGIs appeared during evolution. Their methylation status was analyzed in two monocyte methylome data sets from whole-genome bisulfite sequencing and in 18 published methylomes. Four CGIs, which are located in the RB1, ASRGL1, PARP11, and PDXDC1 genes, occur as methylated and unmethylated copies. In contrast to imprinted methylation at the RB1 locus, differential methylation of the ASRGL1 and PDXDC1 CGIs appears to be sequence dependent. Our study supports the notion that the epigenetic fate of the retrotransposed DNA depends on its sequence and selective forces at the integration site.

Indexed as

CpG IslandsDNA MethylationEvolution, MolecularMiceAnimalsGenomic ImprintingGenotypeHumansIntronsMaleCpG islandsepigeneticsevolutionmethylationretrocopy

Identifiers

PMID24923327
PMCPMC4122923
OpenAlexW2154218944

What OpenQuestion holds

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LicenceCC BY-NC
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.