PXD004880

PXD004880 is an original dataset announced via ProteomeXchange.

Title	Proteome dysregulation in Down syndrome reveals organelle specific aberrations
Description	Human Trisomy 21 (T21), which causes Down Syndrome (DS), is the most common known cause of intellectual disability. However, the molecular basis for DS phenotypic variability remains poorly understood. Here we used SWATH mass spectrometry (SWATH-MS) 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 age-matched controls. The integration of the steady state and turnover proteomic data sets with transcript profiles indicated that protein-specific degradation of members of stoichiometric complexes presents a major determinant of T21 gene dosage outcome, a primary effect that was not apparent from genomic data. The data also reveal that T21 results in extensive proteome remodeling similarly affecting proteins encoded by all chromosomes. Finally, we found broad, organelle-specific posttranscriptional effects such as significant down-regulation of the mitochondrial proteome contributing DS hallmarks and variability.
HostingRepository	PRIDE
AnnounceDate	2017-11-01
AnnouncementXML	Submission_2017-11-01_06:18:10.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Yansheng Liu
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	monohydroxylated residue; iodoacetamide derivatized residue
Instrument	TripleTOF 5600; Q Exactive; LTQ Orbitrap Elite

Revision	Datetime	Status	ChangeLog Entry
0	2016-08-22 03:14:41	ID requested
⏵ 1	2017-11-01 06:18:11	announced

Dataset with its publication pending

curator keyword: Biological, Biomedical

submitter keyword: Human, Fibroblast, Trisomy 21, SWATH

Ruedi Aebersold
contact affiliation	Department of Biology, Institute of Molecular Systems Biology, ETH Zurich, Zurich, Switzerland
contact email	aebersold@imsb.biol.ethz.ch
lab head
Yansheng Liu
contact affiliation	Institute of Molecular Systems Biology, ETH Zurich
contact email	liu@imsb.biol.ethz.ch
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD004880
     1. Label: PRIDE project
     2. Name: Proteome dysregulation in Down syndrome reveals organelle specific aberrations