PXD017227

PXD017227 is an original dataset announced via ProteomeXchange.

Title	Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
Description	Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by absence of platelet ɑ-granules and pathogenic variants in NBEAL2. To discern the spectrum of pathological features, we obtained genotype and phenotype data from 47 GPS patients and performed RNA sequencing and protein mass spectrometry on blood cells and plasma in a subset of these patients. We identified 37 novel GPS-causing variants in NBEAL2. There were widespread differences in the transcriptome and proteome of GPS platelets, neutrophils, monocytes, and CD4-lymphocytes. Proteins less abundant in these cells were enriched for constituents of granules, supporting a role for Nbeal2 in the function of these organelles across a wide range of blood cells. Finally, we show that the plasma proteome of GPS patients has increased levels of proteins associated with inflammation and immune response, 27% of which are synthesized outside of the hematopoietic system, predominantly in the liver.
HostingRepository	PRIDE
AnnounceDate	2020-07-28
AnnouncementXML	Submission_2020-07-28_00:07:53.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Bethany Geary
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	iodoacetamide derivatized residue
Instrument	TripleTOF 6600

Revision	Datetime	Status	ChangeLog Entry
0	2020-01-21 02:12:32	ID requested
⏵ 1	2020-07-28 00:07:54	announced

Sims MC, Mayer L, Collins JH, Bariana TK, Megy K, Lavenu-Bombled C, Seyres D, Kollipara L, Burden FS, Greene D, Lee D, Rodriguez-Romera A, Alessi MC, Astle WJ, Bahou WF, Bury L, Chalmers E, Da Silva R, De Candia E, Deevi SVV, Farrow S, Gomez K, Grassi L, Greinacher A, Gresele P, Hart D, Hurtaud MF, Kelly AM, Kerr R, Le Quellec S, Leblanc T, Lein, ø, e EB, Mapeta R, McKinney H, Michelson AD, Morais S, Nugent D, Papadia S, Park SJ, Pasi J, Podda GM, Poon MC, Reed R, Sekhar M, Shalev H, Sivapalaratnam S, Steinberg-Shemer O, Stephens JC, Tait RC, Turro E, Wu JKM, Zieger B, Kuijpers TW, Whetton AD, Sickmann A, Freson K, Downes K, Erber WN, Frontini M, Nurden P, Ouwehand WH, Favier R, Guerrero JA, Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome. Blood, 136(17):1956-1967(2020) [pubmed]

submitter keyword: Human, GPS, Plasma

Bethany Geary
contact affiliation	Stoller Biomarker Discovery Centre, University of Manchester, United kingdom
contact email	bethany.geary@manchester.ac.uk
lab head
Bethany Geary
contact affiliation	University of Manchester
contact email	bethany.geary@manchester.ac.uk
dataset submitter

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/2020/07/PXD017227

PRIDE project URI

• PRIDE
  1. PXD017227
     1. Label: PRIDE project
     2. Name: Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome