Evidence map›Paper›PMID 27911079›Full record

ReviewEpigenomics2017

Trans-acting epigenetic effects of chromosomal aneuploidies: lessons from Down syndrome and mouse models.

Catherine Do, Zhuo Xing, Y Eugene Yu, Benjamin Tycko

Erratum issuedOpen access · hybridAbstract readReview
In one paragraph

Review in Epigenomics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 36 papers.

0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed
5.4field-weighted citation impact, top 4% 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

36 citing papers in PubMed, 69 citations in OpenAlex.

  1. Article
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  9. Impact of increased APP gene dose in Down syndrome and the Dp16 mouse model.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022
    Article
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  12. Review
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors at 3 institutions in 1 country.

Catherine DoInstitute for Cancer Genetics, Columbia University, New York, NY 10032, USA.
Zhuo XingThe Children's Guild Foundation Down Syndrome Research Program, Genetics Program & Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA.
Y Eugene YuThe Children's Guild Foundation Down Syndrome Research Program, Genetics Program & Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA.
Benjamin TyckoInstitute for Cancer Genetics, Columbia University, New York, NY 10032, USA.
Roswell Park Comprehensive Cancer Center · USCancer Genetics (United States) · USColumbia University · US

Funding

Tumor Biology and Microenvironment ProgramP30CA013696 · NCI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI Anil K Rustgi · 1985 to 2026
$115.3M
Vulnerability to Alzheimers Disease in Down SyndromeP01HD035897 · NICHD · NEW YORK STATE OFFICE OF MENTAL HEALTH · PI TYCKO, BENJAMIN · 1998 to 2014
$19.2M
Epigenomics of Alzheimer's DiseaseR01AG036040 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MAYEUX, RICHARD P, TYCKO, BENJAMIN · 2009 to 2013
$3.3M
Genetic Basis of Failed Cognition in Young and Aged Mouse Models of Trisomy 21R01NS066072 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI MOBLEY, WILLIAM C, YU, EUGENE · 2010 to 2014
$3.2M
Genetic Dissection of Trisomy 21R01HL091519 · NHLBI · ROSWELL PARK CANCER INSTITUTE CORP · PI YU, EUGENE · 2008 to 2012
$2.1M
Allele-specific Mapping in Alzheimer's DiseaseR01AG035020 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MAYEUX, RICHARD P, TYCKO, BENJAMIN · 2010 to 2014
$592k
NCI NIH HHS P30 CA013696NHLBI NIH HHS R01 HL091519NIA NIH HHS R01 AG035020NIA NIH HHS R01 AG036040NICHD NIH HHS P01 HD035897NINDS NIH HHS R01 NS066072
6 · The paper itself

Abstract

An important line of postgenomic research seeks to understand how genetic factors can influence epigenetic patterning. Here we review epigenetic effects of chromosomal aneuploidies, focusing on findings in Down syndrome (DS, trisomy 21). Recent work in human DS and mouse models has shown that the extra chromosome 21 acts in trans to produce epigenetic changes, including differential CpG methylation (DS-DM), in specific sets of downstream target genes, mostly on other chromosomes. Mechanistic hypotheses emerging from these data include roles of chromosome 21-linked methylation pathway genes (DNMT3L and others) and transcription factor genes (RUNX1, OLIG2, GABPA, ERG and ETS2) in shaping the patterns of DS-DM. The findings may have broader implications for trans-acting epigenetic effects of chromosomal and subchromosomal aneuploidies in other human developmental and neuropsychiatric disorders, and in cancers.

Indexed as

AneuploidyEpigenesis, GeneticAnimalsCpG IslandsDisease Models, AnimalDNA MethylationDown SyndromeGene ExpressionHumansMicePhenotypeaneuploidycancerchromatinCTCFdevelopmental disordersDNA methylationDown syndromemethyltransferasesmouse modelstranscription factors

Identifiers

PMID27911079
PMCPMC5549717
OpenAlexW2559246455

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.