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dc.contributor.author
Liu, Yansheng
dc.contributor.author
Borel, Christelle
dc.contributor.author
Li, Li
dc.contributor.author
Müller, Torsten
dc.contributor.author
Williams, Evan G.
dc.contributor.author
Germain, Pierre-Luc
dc.contributor.author
Buljan, Marija
dc.contributor.author
Sajic, Tatjana
dc.contributor.author
Boersema, Paul J.
dc.contributor.author
Shao, Wenguang
dc.contributor.author
Faini, Marco
dc.contributor.author
Testa, Giuseppe
dc.contributor.author
Beyer, Andreas
dc.contributor.author
Antonarakis, Stylianos E.
dc.contributor.author
Aebersold, Ruedi
dc.date.accessioned
2017-12-06T15:47:46Z
dc.date.available
2017-11-10T04:02:09Z
dc.date.available
2017-12-06T15:47:46Z
dc.date.issued
2017
dc.identifier.other
10.1038/s41467-017-01422-6
en_US
dc.identifier.uri
http://hdl.handle.net/20.500.11850/206830
dc.identifier.doi
10.3929/ethz-b-000206830
dc.description.abstract
Down syndrome (DS) is mostly caused by a trisomy of the entire Chromosome 21 (Trisomy 21, T21). Here, we use SWATH mass spectrometry to quantify protein abundance and protein turnover in fibroblasts from a monozygotic twin pair discordant for T21, and to profile protein expression in 11 unrelated DS individuals and matched controls. The integration of the steady-state and turnover proteomic data indicates that protein-specific degradation of members of stoichiometric complexes is a major determinant of T21 gene dosage outcome, both within and between individuals. This effect is not apparent from genomic and transcriptomic data. The data also reveal that T21 results in extensive proteome remodeling, affecting proteins encoded by all chromosomes. Finally, we find broad, organelle-specific post-transcriptional effects such as significant downregulation of the mitochondrial proteome contributing to T21 hallmarks. Overall, we provide a valuable proteomic resource to understand the origin of DS phenotypic manifestations.
en_US
dc.language.iso
en
en_US
dc.publisher
Nature Publishing Group
en_US
dc.rights.uri
http://creativecommons.org/licenses/by/4.0/
dc.title
Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells
en_US
dc.type
Journal Article
dc.rights.license
Creative Commons Attribution 4.0 International
dc.date.published
2017-10-31
ethz.journal.title
Nature Communications
ethz.journal.volume
8
en_US
ethz.journal.issue
1
en_US
ethz.pages.start
1212
en_US
ethz.size
15 p.
en_US
ethz.version.deposit
publishedVersion
en_US
ethz.grant
MitoModules: Biomarkers in context
en_US
ethz.identifier.wos
ethz.identifier.scopus
ethz.publication.place
London
en_US
ethz.publication.status
published
en_US
ethz.leitzahl
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02030 - Departement Biologie / Department of Biology::02538 - Institut für Molekulare Systembiologie (IMSB) / Institute for Molecular Systems Biology (IMSB)::03663 - Aebersold, Rudolf
ethz.leitzahl.certified
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02030 - Departement Biologie / Department of Biology::02538 - Institut für Molekulare Systembiologie (IMSB) / Institute for Molecular Systems Biology (IMSB)::03663 - Aebersold, Rudolf
ethz.grant.agreementno
166435
ethz.grant.fundername
SNF
ethz.grant.funderDoi
10.13039/501100001711
ethz.grant.program
Projektförderung in Biologie und Medizin (Abteilung III)
ethz.date.deposited
2017-11-10T04:02:10Z
ethz.source
SCOPUS
ethz.eth
yes
en_US
ethz.availability
Open access
en_US
ethz.rosetta.installDate
2017-12-06T15:47:55Z
ethz.rosetta.lastUpdated
2017-12-22T02:45:55Z
ethz.rosetta.exportRequired
true
ethz.rosetta.versionExported
true
ethz.COinS
ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.atitle=Systematic%20proteome%20and%20proteostasis%20profiling%20in%20human%20Trisomy%2021%20fibroblast%20cells&rft.jtitle=Nature%20Communications&rft.date=2017&rft.volume=8&rft.issue=1&rft.spage=1212&rft.au=Liu,%20Yansheng&Borel,%20Christelle&Li,%20Li&M%C3%BCller,%20Torsten&Williams,%20Evan%20G.&rft.genre=article&rft_id=info:doi/10.1038/s41467-017-01422-6
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