Evidence map›Paper›PMID 20577743›Full record

ArticleMammalian genome : official journal of the International Mammalian Genome Society2010

Defective imprint resetting in carriers of Robertsonian translocation Rb (8.12).

Aabida Saferali, Soizik Berlivet, John Schimenti, Marisa S Bartolomei, Teruko Taketo, Anna K Naumova

Abstract read
PubMed Publisher
In one paragraph

Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.9field-weighted citation impact, top 26% 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

6 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Robertsonian translocations modify genomic distribution of γH2AFX and H3.3 in mouse germ cells.Mammalian genome : official journal of the International Mammalian Genome Society · 2016
    Article
  3. Article
  4. Article
  5. The frequency of heterologous synapsis increases with aging in Robertsonian heterozygous male mice.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2012
    Article
  6. Article
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

6 authors at 4 institutions in 2 countries.

Aabida SaferaliDepartment of Human Genetics, McGill University, Montreal, QC, Canada.
Soizik Berlivet
John Schimenti
Marisa S Bartolomei
Teruko Taketo
Anna K Naumova
McGill University · CACornell University · USRoyal Victoria Hospital · CAUniversity of Pennsylvania · US

Funding

SEQUENCES CONTROLLING H19 GENE IMPRINTINGR01GM051279 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI BARTOLOMEI, MARISA S. · 1994 to 2024
$5.1M
Sequences controlling H19 Gene ImprintingR37GM051279 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI BARTOLOMEI, MARISA S. · 2011 to 2020
$3.9M
NIGMS NIH HHS GM51279
6 · The paper itself

Abstract

Meiotic silencing of unsynapsed chromatin (MSUC) occurs in the germ cells of translocation carriers and may cause meiotic arrest and infertility. We hypothesized that if bypassing meiotic checkpoints MSUC may cause epigenetic defects in sperm. We investigated the meiotic behavior of the Robertsonian translocation Rb (8.12) in mice. The unsynapsed 8 and 12 trivalent was associated with the XY body during early and mid-pachynema in heterozygous Rb (8.12) carriers, suggesting possible silencing of pericentromeric genes, such as the Dnmt3a gene. In wild-type mice, DNMT3A protein showed a dramatic accumulation in the nucleus during the mid-pachytene stage and distinct association with the XY body. In translocation carriers, DNMT3A was less abundant in a proportion of pachytene spermatocytes that also had unsynapsed pericentromeric regions of chromosomes 8 and 12. The same mice had incomplete methylation of the imprinted H19 differentially methylated region (DMR) in sperm. We propose that impaired H19 imprint establishment results from lack of synapsis in chromosomes 8 and 12 probably through transient silencing of a chromosome 8 or 12 gene during pachynema. Furthermore, our findings support the notion that imprint establishment at the H19 locus extends into pachynema.

Indexed as

AnimalsCell NucleusChromosome PairingDNA (Cytosine-5-)-MethyltransferasesDNA Methyltransferase 3AFemaleGenomic ImprintingHeterozygoteMaleMeiosisMiceMice, Inbred BALB CMice, Inbred C57BLMice, TransgenicRepressor ProteinsSpermatocytesASXL2 protein, mouseDNA (Cytosine-5-)-MethyltransferasesDNA Methyltransferase 3ADNMT3A protein, humanDnmt3a protein, mouseRepressor Proteins

Identifiers

PMID20577743
OpenAlexW2041050325

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.