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Proc Natl Acad Sci U S A ; 120(16): e2214997120, 2023 04 18.
Article in English | MEDLINE | ID: mdl-37043537

ABSTRACT

While somatic variants of TRAF7 (Tumor necrosis factor receptor-associated factor 7) underlie anterior skull-base meningiomas, here we report the inherited mutations of TRAF7 that cause congenital heart defects. We show that TRAF7 mutants operate in a dominant manner, inhibiting protein function via heterodimerization with wild-type protein. Further, the shared genetics of the two disparate pathologies can be traced to the common origin of forebrain meninges and cardiac outflow tract from the TRAF7-expressing neural crest. Somatic and inherited mutations disrupt TRAF7-IFT57 interactions leading to cilia degradation. TRAF7-mutant meningioma primary cultures lack cilia, and TRAF7 knockdown causes cardiac, craniofacial, and ciliary defects in Xenopus and zebrafish, suggesting a mechanistic convergence for TRAF7-driven meningiomas and developmental heart defects.


Subject(s)
Heart Defects, Congenital , Meningeal Neoplasms , Meningioma , Animals , Adaptor Proteins, Signal Transducing/metabolism , Heart Defects, Congenital/genetics , Meningeal Neoplasms/genetics , Meningioma/genetics , Meningioma/pathology , Mutation , Skull/metabolism , Zebrafish/genetics , Zebrafish/metabolism , Zebrafish Proteins/genetics , Humans , Tumor Necrosis Factor Receptor-Associated Peptides and Proteins
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