PXD036151

PXD036151 is an original dataset announced via ProteomeXchange.

Title	Proteomic analysis of the secretome of chondrocyte-like cells in Saul-Wilson syndrome
Description	Saul-Wilson syndrome (SWS) is a rare skeletal dysplasia often presents with features such as a distinct facial phenotype, cataracts, short stature, clubfoot deformities, and microcephaly. We have previously identified that the causative mutation in SWS is a heterozygous, dominant variant (p.G516R) in COG4. COG4 is a Golgi-associated protein which plays important roles in protein trafficking. We further showed that the mutation impacts glycosylation of proteoglycans and disturbs chondrocyte elongation and intercalation in zebrafish embryos expressing COG4p.G516R variant. These effects could be partially rescued by adding wild type cells or their conditioned medium, implicating secretion anomalies associated with COG4p.G516R variant. We have conducted proteomic analysis of the conditioned medium from chondrocyte-like cells (SW1353) expressing COG4p.G516R variant and compared these to wild type SW1353 cells and a knockout of COG4 in these cells. 4,4438 proteins were identified and quantified and comparative analysis was performed. We utilized 3D cultures for performing secretome analysis to investigate the specific changes caused by p.G516R variant compared to WT and COG4-KO.
HostingRepository	PRIDE
AnnounceDate	2023-11-14
AnnouncementXML	Submission_2023-11-14_08:03:34.792.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Hudson Freeze
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Orbitrap Fusion Lumos

Revision	Datetime	Status	ChangeLog Entry
0	2022-08-18 07:57:38	ID requested
1	2023-03-10 18:47:58	announced
⏵ 2	2023-11-14 08:03:35	announced	2023-11-14: Updated project metadata.

Xia ZJ, Mahajan S, Paul Daniel EJ, Ng BG, Saraswat M, Campos AR, Murad R, He M, Freeze HH, COG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells. Front Cell Dev Biol, 10():979096(2022) [pubmed]

submitter keyword: Human, Saul-Wilson syndrome, Secretome, Chondrocyte-like cells

Hudson Freeze
contact affiliation	Director Sanford Children’s Health Research Center Sanford Burnham Prebys Medical Discovery Institute 10901 N Torrey Pines Rd, La Jolla, CA 92037
contact email	hudson@sbpdiscovery.org
lab head
Hudson Freeze
contact affiliation	Sanford Burnham Prebys Medical Discovery Institute
contact email	hudson@sbpdiscovery.org
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD036151
     1. Label: PRIDE project
     2. Name: Proteomic analysis of the secretome of chondrocyte-like cells in Saul-Wilson syndrome