PXD006268

PXD006268 is an original dataset announced via ProteomeXchange.

Title	Comparative proteomics of non-nodular and nodular skin tissues from a Hyaline Fibromatosis Syndrome patient.
Description	Hyaline Fibromatosis Syndrome (HFS) is a rare genetic disorder caused by loss-of-function mutations in the gene CMG2. Patients develop subcutaneous nodules and painful joint contracture. CMG2 is a transmembrane protein of poorly understood physiological function. To understand better the pathogenesis of HFS and the role of CMG2 in this disease, we compared by mass-spectrometry the composition of nodular and matching non-nodular tissues. Two tissue pairs were analyzed, both obtained after surgical resection of nodules from a HFS patient. Our shotgun proteomics analysis showed that nodules were enriched in serum protein, which correlated with previous descriptions of blood vessel leakage in these tissues. Importantly, we also observed a clear accumulation of collagen VI in nodules. Collagen VI accumulation was caused by CMG2 loss-of-function and is the main cause of the nodule formation.
HostingRepository	PRIDE
AnnounceDate	2017-07-07
AnnouncementXML	Submission_2017-07-07_06:17:48.xml
DigitalObjectIdentifier	https://dx.doi.org/10.6019/PXD006268
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	Jérôme Bürgi
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	Ammonia-loss; Phospho; Dehydrated; Oxidation; Acetyl; Carbamidomethyl
Instrument	Q Exactive

Revision	Datetime	Status	ChangeLog Entry
0	2017-04-06 01:48:51	ID requested
⏵ 1	2017-07-07 06:17:50	announced

B, ü, rgi J, Kunz B, Abrami L, Deuquet J, Piersigilli A, Scholl-B, ü, rgi S, Lausch E, Unger S, Superti-Furga A, Bonaldo P, van der Goot FG, CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. Nat Commun, 8():15861(2017) [pubmed]

curator keyword: Biomedical

submitter keyword: Human, Skin, Hyaline Fibromatosis Syndrome, Collagen, Extracellular matrix

Gisou van der Goot
contact affiliation	Faculty of life science, Global Health Institute, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.
contact email	gisou.vandergoot@epfl.ch
lab head
Jérôme Bürgi
contact affiliation	EMBL
contact email	jerome.buergi@embl-hamburg.de
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/2017/07/PXD006268

PRIDE project URI

• PRIDE
  1. PXD006268
     1. Label: PRIDE project
     2. Name: Comparative proteomics of non-nodular and nodular skin tissues from a Hyaline Fibromatosis Syndrome patient.