Evidence map›Paper›PMID 20569505›Full record

ArticleGenome biology2010

A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes.

Rossella De Cegli, Antonio Romito, Simona Iacobacci, Lei Mao, Mario Lauria, Anthony O Fedele, Joachim Klose, Christelle Borel, Patrick Descombes, Stylianos E Antonarakis and 4 more

Open access · hybridAbstract read
In one paragraph

Article in Genome biology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
3.0field-weighted citation impact, top 9% 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

11 citing papers in PubMed, 18 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

14 authors at 3 institutions in 3 countries.

Rossella De CegliTelethon Institute of Genetics and Medicine, Via P, Castellino 111, Napoli, 80131, Italy.
Antonio Romito
Simona Iacobacci
Lei Mao
Mario Lauria
Anthony O Fedele
Joachim Klose
Christelle Borel
Patrick Descombes
Stylianos E Antonarakis
Diego di Bernardo
Sandro Banfi
Andrea Ballabio
Gilda Cobellis
Telethon Institute Of Genetics And Medicine · ITUniversity of Geneva · CHCharité - Universitätsmedizin Berlin · DE

Funding

Telethon TGM06D05
6 · The paper itself

Abstract

backgroundDosage imbalance is responsible for several genetic diseases, among which Down syndrome is caused by the trisomy of human chromosome 21.

resultsTo elucidate the extent to which the dosage imbalance of specific human chromosome 21 genes perturb distinct molecular pathways, we developed the first mouse embryonic stem (ES) cell bank of human chromosome 21 genes. The human chromosome 21-mouse ES cell bank includes, in triplicate clones, 32 human chromosome 21 genes, which can be overexpressed in an inducible manner. Each clone was transcriptionally profiled in inducing versus non-inducing conditions. Analysis of the transcriptional response yielded results that were consistent with the perturbed gene's known function. Comparison between mouse ES cells containing the whole human chromosome 21 (trisomic mouse ES cells) and mouse ES cells overexpressing single human chromosome 21 genes allowed us to evaluate the contribution of single genes to the trisomic mouse ES cell transcriptome. In addition, for the clones overexpressing the Runx1 gene, we compared the transcriptome changes with the corresponding protein changes by mass spectroscopy analysis.

conclusionsWe determined that only a subset of genes produces a strong transcriptional response when overexpressed in mouse ES cells and that this effect can be predicted taking into account the basal gene expression level and the protein secondary structure. We showed that the human chromosome 21-mouse ES cell bank is an important resource, which may be instrumental towards a better understanding of Down syndrome and other human aneuploidy disorders.

Indexed as

Gene Expression RegulationTissue BanksAnimalsCell LineChromosomes, Human, Pair 21Core Binding Factor Alpha 2 SubunitEmbryonic Stem CellsGene DosageGene Expression ProfilingHumansMiceMice, TransgenicPolymerase Chain ReactionProteomeRecombination, GeneticReproducibility of ResultsCore Binding Factor Alpha 2 SubunitProteome

Identifiers

PMID20569505
PMCPMC2911112
OpenAlexW2155225613

What OpenQuestion holds

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Registered trials

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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.