PXD018178 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | G-CSFR expression is not essential for neutrophil differentiation but for progenitor formation and emergency neutrophil responses |
Description | Severe congenital neutropenia (SCN) is a rare disorder characterized by a maturation arrest of myeloid progenitor cells in the bone marrow and severe reduction in the amount of circulating neutrophils. Loss-of-function mutations in the CSF3R (the gene encoding the granulocyte colony-stimulating factor (G-CSF) receptor) have been reported in a handful of cases. We describe two novel pedigrees with moderate neutropenia. G-CSFR immunostaining was greatly reduced on patient neutrophils. G-CSF did not prolong neutrophil survival or enhanced reactive oxygen species generation, and STAT-3 phosphorylation was absent, while neutrophils did respond to granulocyte-macrophage colony-stimulating factor (GM-CSF). Despite a lack of G-CSF signaling, morphology and cellular proteomics were normal. We suggest the major role of G-CSF is not in myeloid differentiation, but in generation of sufficient number of committed progenitor cells for neutrophil release and their survival during inflammation, which corresponds with G-CSFR expression in myeloid cell fractions from bone marrow of healthy individuals. |
HostingRepository | PRIDE |
AnnounceDate | 2020-09-25 |
AnnouncementXML | Submission_2020-09-24_22:54:18.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Floris van Alphen |
SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | monohydroxylated residue; acetylated residue; iodoacetamide derivatized residue |
Instrument | Orbitrap Fusion |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2020-03-24 23:19:12 | ID requested | |
⏵ 1 | 2020-09-24 22:54:19 | announced | |
Publication List
Sprenkeler EGG, Tool ATJ, Kreft IC, van Alphen FPJ, Seneviratne SL, Maimaris J, Luqmani A, van Leeuwen K, van Bruggen R, Burns SO, Kuijpers TW, Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees. Br J Haematol, 191(5):930-934(2020) [pubmed] |
Keyword List
submitter keyword: Phagocytes, Granulocytes, and Myelopoiesis |
Contact List
Prof. Dr. T.W. Kuijpers |
contact affiliation | Department of Blood Cell Research, Sanquin Research and Laboratory Services and Landsteiner Laboratory, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The Netherlands and Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children’s Hospital, AUMC, University of Amsterdam, Amsterdam, The Netherlands. |
contact email | T.w.kuijpers@AmsterdamUMC.nl |
lab head | |
Floris van Alphen |
contact affiliation | Sanquin Research |
contact email | F.vanalphen@sanquin.nl |
dataset submitter | |
Full Dataset Link List
Dataset FTP location
NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2020/09/PXD018178 |
PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD018178
- Label: PRIDE project
- Name: G-CSFR expression is not essential for neutrophil differentiation but for progenitor formation and emergency neutrophil responses