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PXD018178

PXD018178 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleG-CSFR expression is not essential for neutrophil differentiation but for progenitor formation and emergency neutrophil responses
DescriptionSevere 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.
HostingRepositoryPRIDE
AnnounceDate2020-09-25
AnnouncementXMLSubmission_2020-09-24_22:54:18.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterFloris van Alphen
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListmonohydroxylated residue; acetylated residue; iodoacetamide derivatized residue
InstrumentOrbitrap Fusion
Dataset History
RevisionDatetimeStatusChangeLog Entry
02020-03-24 23:19:12ID requested
12020-09-24 22:54:19announced
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 affiliationDepartment 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 emailT.w.kuijpers@AmsterdamUMC.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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