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PXD020343-1

PXD020343 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleSpecific proteome changes in platelets from individuals with GATA1-, GFI1B- and RUNX1-linked bleeding disorders
DescriptionMutations in the transcription factors GATA1, GFI1B and RUNX1 (GATA Binding Factor 1, Growth Factor Independence 1B, Runt-related transcription factor 1) cause familial platelet and bleeding disorders. Mutant platelets exhibit common abnormalities including an α-granule reduction. This suggests that similar pathways are deregulated by different transcription factor mutations. To identify common factors, full platelet proteomes from individuals with mutant GATA1R216Q, GFI1BQ287*, RUNX1TD2-6, or RUNX1Q154Rfs, and healthy controls were examined by label free quantitative mass spectrometry. Unsupervised clustering analysis of 2823 reliably quantified proteins revealed profound differences between cases and controls. Among cases, 82 of 174 significantly downregulated proteins were assigned to platelet function, hemostasis and granule biology, in line with platelet dysfunction and bleedings. Remarkably, only two of these proteins were diminished in all affected cases. This indicates that transcription factor mutations alter platelet proteomes in distinct largely non-overlapping manners. In contrast to the two common diminished proteins, 46 proteins were overrepresented in all affected cases compared to controls. These proteins converged to mitochondrial, metabolic and other biological processes. This work provides the quantitative landscape of proteins that affect platelet function when deregulated by mutated transcription factors in inherited bleeding disorders.
HostingRepositoryPRIDE
AnnounceDate2022-02-22
AnnouncementXMLSubmission_2022-02-22_05:04:50.279.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterFloris van Alphen
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListiodoacetamide derivatized residue
InstrumentOrbitrap Fusion
Dataset History
RevisionDatetimeStatusChangeLog Entry
02020-07-13 17:43:59ID requested
12022-02-22 05:04:50announced
22023-11-14 08:51:20announced2023-11-14: Updated project metadata.
Publication List
10.1182/BLOOD.2020008118;
Keyword List
submitter keyword: Transcription factors, GFI1B, RUNX1, GATA1, platelet disorders, bleeding
Contact List
Bert A. van der Reijden
contact affiliationDepartment of Laboratory Medicine, Laboratory of Hematology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands
contact emailbert.vanderreijden@radboudumc.nl
lab head
Floris van Alphen
contact affiliationSanquin Research
contact emailF.vanalphen@sanquin.nl
dataset submitter
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Dataset FTP location
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