BRUNA LUCHEZE FREIRE

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LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina

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    SCUBE3 loss-of-function causes a recognizable developmental disorder due to defective bone morphogenetic protein (BMP) signaling
    (2022) NICETA, Marcello; LIN, Yuh-Charn; MUTO, Valentina; VONA, Barbara; PAGNAMENTA, Alistair T.; MAROOFIAN, Reza; BEETZ, Christian; DUYVENVOORDE, Hermine Van; DENTICI, Maria Lisa; LAUFFER, Peter; VALLIAN, Sadeq; CIOLFI, Andrea; PIZZI, Simone; BAUER, Peter; GRUNING, Nana-Maria; BELLACCHIO, Emanuele; FATTORE, Andrea Del; PETRINI, Stefania; SHAHEEN, Ranad; TIOSANO, Dov; HALLOUN, Rana; PODE-SHAKKED, Ben; ALBAYRAK, Hatice Mutlu; ISIK, Emregul; WIT, Jan M.; DITTRICH, Marcus; FREIRE, Bruna L.; BERTOLA, Debora R.; JORGE, Alexander A. L.; BAREL, Ortal; SABIR, Ataf H.; TENEIJI, Amal M. Al; TAJI, Sulaima M.; AL-SANNAA, Nouriya; AL-ABDULWAHED, Hind; DIGILIO, Maria Cristina; IRVING, Melita; ANIKSTER, Yair; BHAVANI, Gandham S. L.; GIRISHA, Katta M.; HAAF, Thomas; TAYLOR, Jenny C.; DALLAPICCOLA, Bruno; ALKURAYA, Fowzan S.; YANG, Ruey-Bing; TARTAGLIA, Marco
  • article 37 Citação(ões) na Scopus
    SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
    (2021) LIN, Yuh-Charn; NICETA, Marcello; MUTO, Valentina; VONA, Barbara; PAGNAMENTA, Alistair T.; MAROOFIAN, Reza; BEETZ, Christian; DUYVENVOORDE, Hermine van; DENTICI, Maria Lisa; LAUFFER, Peter; VALLIAN, Sadeq; CIOLFI, Andrea; PIZZI, Simone; BAUER, Peter; GRUENING, Nana-Maria; BELLACCHIO, Emanuele; FATTORE, Andrea Del; PETRINI, Stefania; SHAHEEN, Ranad; TIOSANO, Dov; HALLOUN, Rana; Ben Pode-Shakked; ALBAYRAK, Hatice Mutlu; ISIK, Emreguel; WIT, Jan M.; DITTRICH, Marcus; FREIRE, Bruna L.; BERTOLA, Debora R.; JORGE, Alexander A. L.; BAREL, Ortal; SABIR, Ataf H.; TENAIJI, Amal M. J. Al; TAJI, Sulaima M.; AL-SANNAA, Nouriya; AL-ABDULWAHED, Hind; DIGILIO, Maria Cristina; IRVING, Melita; ANIKSTER, Yair; BHAVANI, Gandham S. L.; GIRISHA, Katta M.; HAAF, Thomas; TAYLOR, Jenny C.; DALLAPICCOLA, Bruno; ALKURAYA, Fowzan S.; YANG, Ruey-Bing; TARTAGLIA, Marco
    Signal peptide-CUB-EGF domain-containing protein 3 (SCUBE3) is a member of a small family of multifunctional cell surface-anchored glycoproteins functioning as co-receptors for a variety of growth factors. Here we report that bi-allelic inactivating variants in SCUBE3 have pleiotropic consequences on development and cause a previously unrecognized syndromic disorder. Eighteen affected individuals from nine unrelated families showed a consistent phenotype characterized by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. In vitro functional validation studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, and their dysregulating effect on bone morphogenetic protein (BMP) signaling. We show that SCUBE3 acts as a BMP2/BMP4 co-receptor, recruits the BMP receptor complexes into raft microdomains, and positively modulates signaling possibly by augmenting the specific interactions between BMPs and BMP type I receptors. Scube3(-/-) mice showed craniofacial and dental defects, reduced body size, and defective endochondral bone growth due to impaired BMP-mediated chondrogenesis and osteogenesis, recapitulating the human disorder. Our findings identify a human disease caused by defective function of a member of the SCUBE family, and link SCUBE3 to processes controlling growth, morphogenesis, and bone and teeth development through modulation of BMP signaling.