Evidence map›Paper›PMID 25539566›Full record

ArticleBMC genomics2014

CAGE-defined promoter regions of the genes implicated in Rett Syndrome.

Morana Vitezic, Nicolas Bertin, Robin Andersson, Leonard Lipovich, Hideya Kawaji, Timo Lassmann, Albin Sandelin, Peter Heutink, Dan Goldowitz, Thomas Ha and 7 more

Open access · goldAbstract read
In one paragraph

Article in BMC genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.7field-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

8 citing papers in PubMed, 10 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

17 authors at 10 institutions in 10 countries.

Morana VitezicOmics Science Center, RIKEN Yokohama Institute, Omics Science Center (OSC), 1-17-22 Suehiro cho, Tsurumi ku, Yokohama, Japan. mvitezic@gmail.com.
Nicolas BertinOmics Science Center, RIKEN Yokohama Institute, Omics Science Center (OSC), 1-17-22 Suehiro cho, Tsurumi ku, Yokohama, Japan. nicolas.bertin@gmail.com.
Robin AnderssonThe Bioinformatics Center, Department of Biology and Biotech Research and Innovation Center, University of Copenhagen, Copenhagen, Denmark. robin@binf.ku.dk.
Leonard LipovichCenter for Molecular Medicine and Genetics, Wayne State University, Detroit, MI, USA. LLipovich@med.wayne.edu.
Hideya KawajiOmics Science Center, RIKEN Yokohama Institute, Omics Science Center (OSC), 1-17-22 Suehiro cho, Tsurumi ku, Yokohama, Japan. kawaji@gsc.riken.jp.
Timo LassmannOmics Science Center, RIKEN Yokohama Institute, Omics Science Center (OSC), 1-17-22 Suehiro cho, Tsurumi ku, Yokohama, Japan. timo.lassmann@telethonkids.org.au.
Albin SandelinThe Bioinformatics Center, Department of Biology and Biotech Research and Innovation Center, University of Copenhagen, Copenhagen, Denmark. albin@binf.ku.dk.
Peter HeutinkDivision of Genomic Technologies (DGT), RIKEN Center for Life Science Technologies, Yokohama, Japan. peter.heutink@dzne.de.
Dan GoldowitzCentre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Dept of Medical Genetics, University of British Columbia, Vancouver, Canada. dang@cmmt.ubc.ca.
Thomas HaCentre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Dept of Medical Genetics, University of British Columbia, Vancouver, Canada. tjha@cmmt.ubc.ca.
Peter ZhangCentre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Dept of Medical Genetics, University of British Columbia, Vancouver, Canada. pzhang@cmmt.ubc.ca.
Annarita PatriziFM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. annarita.patrizi@childrens.harvard.edu.
Michela FagioliniFM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. michela.fagiolini@childrens.harvard.edu.
Alistair R R ForrestOmics Science Center, RIKEN Yokohama Institute, Omics Science Center (OSC), 1-17-22 Suehiro cho, Tsurumi ku, Yokohama, Japan. forrest@gsc.riken.jp.
Piero CarninciOmics Science Center, RIKEN Yokohama Institute, Omics Science Center (OSC), 1-17-22 Suehiro cho, Tsurumi ku, Yokohama, Japan. carninci@riken.jp.
Alka SaxenaOmics Science Center, RIKEN Yokohama Institute, Omics Science Center (OSC), 1-17-22 Suehiro cho, Tsurumi ku, Yokohama, Japan. alka.saxena@gstt.nhs.uk.
FANTOM Consortium
Child and Family Research Institute · CAUniversity of Copenhagen · DKBoston Children's Hospital · USCE Technologies (United Kingdom) · GBGerman Center for Neurodegenerative Diseases · DEGuy's Hospital · GBNational University Cancer Institute, Singapore · SGRIKEN Center for Sustainable Resource Science · JPThe Kids Research Institute Australia · AUWayne State University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMutations in three functionally diverse genes cause Rett Syndrome. Although the functions of Forkhead box G1 (FOXG1), Methyl CpG binding protein 2 (MECP2) and Cyclin-dependent kinase-like 5 (CDKL5) have been studied individually, not much is known about their relation to each other with respect to expression levels and regulatory regions. Here we analyzed data from hundreds of mouse and human samples included in the FANTOM5 project, to identify transcript initiation sites, expression levels, expression correlations and regulatory regions of the three genes.

resultsOur investigations reveal the predominantly used transcription start sites (TSSs) for each gene including novel transcription start sites for FOXG1. We show that FOXG1 expression is poorly correlated with the expression of MECP2 and CDKL5. We identify promoter shapes for each TSS, the predicted location of enhancers for each gene and the common transcription factors likely to regulate the three genes. Our data imply Polycomb Repressive Complex 2 (PRC2) mediated silencing of Foxg1 in cerebellum.

conclusionsOur analyses provide a comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome.

Indexed as

Gene Expression ProfilingAnimalsBrainCell Line, TumorCpG IslandsForkhead Transcription FactorsGenomicsHistonesHumansMethyl-CpG-Binding Protein 2MiceNerve Tissue ProteinsNeuronsPromoter Regions, GeneticProtein Serine-Threonine KinasesRett SyndromeCDKL5 protein, humanForkhead Transcription FactorsFOXG1 protein, humanHistonesMethyl-CpG-Binding Protein 2Nerve Tissue ProteinsProtein Serine-Threonine Kinases

Identifiers

PMID25539566
PMCPMC4522966
OpenAlexW1861797323

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.