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

Jérôme Bürgi, Béatrice Kunz, Laurence Abrami, Julie Deuquet, Alessandra Piersigilli, Sabine Scholl-Bürgi, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga, Paolo Bonaldo and F. Gisou van der Goot ()
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Jérôme Bürgi: Global Health Institute, Ecole Polytechnique Fédérale de Lausanne (EPFL)
Béatrice Kunz: Global Health Institute, Ecole Polytechnique Fédérale de Lausanne (EPFL)
Laurence Abrami: Global Health Institute, Ecole Polytechnique Fédérale de Lausanne (EPFL)
Julie Deuquet: Global Health Institute, Ecole Polytechnique Fédérale de Lausanne (EPFL)
Alessandra Piersigilli: Comparative Mouse Physiology Platform, Faculty of Life Sciences, EPFL
Sabine Scholl-Bürgi: Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders
Ekkehart Lausch: University of Freiburg
Sheila Unger: Centre Hospitalier Universitaire Vaudois, University of Lausanne
Andrea Superti-Furga: Centre Hospitalier Universitaire Vaudois, University of Lausanne
Paolo Bonaldo: University of Padova
F. Gisou van der Goot: Global Health Institute, Ecole Polytechnique Fédérale de Lausanne (EPFL)

Nature Communications, 2017, vol. 8, issue 1, 1-10

Abstract: Abstract 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, collagen VI accumulates massively in uteri of Antxr2−/− mice, which do not display changes in collagen gene expression, and leads to progressive fibrosis and sterility. Crossing Antxr2−/− with Col6a1−/− mice leads to restoration of uterine structure and reversion of female infertility. We also demonstrate that CMG2 may act as a signalling receptor for collagen VI and mediates its intracellular degradation.

Date: 2017
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DOI: 10.1038/ncomms15861

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