Dataset Information

Comparative proteomics of non-nodular and nodular skin tissues from a Hyaline Fibromatosis Syndrome patient.

ABSTRACT: 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.

INSTRUMENT(S): Q Exactive

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Skin

DISEASE(S): Autosomal Recessive Disease

SUBMITTER: Jérôme Bürgi

LAB HEAD: Gisou van der Goot

PROVIDER: PXD006268 | Pride | 2017-07-07

REPOSITORIES: Pride

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Dataset's files

Source:

			Action	DRS
	JB_150224_Qexactive_A01.mzid.gz	Mzid
	JB_150224_Qexactive_A01.mzid_JB_150224_Qexactive_A01.MGF	Mzid
	JB_150224_Qexactive_A01.mzid_JB_150224_Qexactive_A01.pride.mgf.gz	Mzid
	JB_150224_Qexactive_A01.pride.mztab.gz	Mztab
	JB_150224_Qexactive_A01.raw	Raw

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Publications

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome.

Bürgi Jérôme J Kunz Béatrice B Abrami Laurence L Deuquet Julie J Piersigilli Alessandra A Scholl-Bürgi Sabine S Lausch Ekkehart E Unger Sheila S Superti-Furga Andrea A Bonaldo Paolo P van der Goot F Gisou FG

Nature communications 20170612

Loss-of-function mutations in capillary morphogenesis gene 2 (CMG2/ANTXR2), a transmembrane surface protein, cause hyaline fibromatosis syndrome (HFS), a severe genetic disorder that is characterized by large subcutaneous nodules, gingival hypertrophy and severe painful joint contracture. Here we show that CMG2 is an important regulator of collagen VI homoeostasis. CMG2 loss of function promotes accumulation of collagen VI in patients, leading in particular to nodule formation. Similarly, collag ...[more]

PMID: 28604699

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