
Mutations in the nuclear trypsin-like serine protease FAM111A cause Kenny-Caffey syndrome (KCS2) with hypoparathyroidism and skeletal dysplasia or perinatally lethal osteocraniostenosis (OCS). In addition, FAM111A was identified as a restriction factor for certain host range mutants of the SV40 polyomavirus and VACV orthopoxvirus. However, because FAM111A function is poorly characterized, its roles in restricting viral replication and the etiology of KCS2 and OCS remain undefined. We find that FAM111A KCS2 and OCS patient mutants are hyperactive and cytotoxic, inducing apoptosis-like phenotypes such as disruption of nuclear structure and pore distribution, in a protease-dependent manner. Moreover, wild-type FAM111A activity causes similar nuclear phenotypes, including the loss of nuclear barrier function, when SV40 host range mutants attempt to replicate in restrictive cells. Interestingly, pan-caspase inhibitors do not block these FAM111A-induced phenotypes, implying it acts independently or upstream of caspases. In this regard, we identify nucleoporins and the associated GANP transcription/replication factor as FAM111A interactors and candidate targets. Overall, we reveal a potentially unifying mechanism through which deregulated FAM111A activity restricts viral replication and causes KCS2 and OCS.
570, Hypoparathyroidism, Simian virus 40, Virus Replication, Kenny-Caffey syndrome, Craniofacial Abnormalities, Congenital, Rare Diseases, Cortical, nuclear pore complex, Receptors, Genetics, 2.1 Biological and endogenous factors, Humans, Developmental, restriction of polyomavirus replication, FAM111A, Cell Nucleus, Bone Diseases, Developmental, Kenny–, Biological Sciences, Hyperostosis, Virus, Hyperostosis, Cortical, Congenital, Caffey syndrome, Infectious Diseases, Osteocraniostenosis, Biochemistry and cell biology, Receptors, Virus, Biochemistry and Cell Biology, Bone Diseases, Developmental Biology
570, Hypoparathyroidism, Simian virus 40, Virus Replication, Kenny-Caffey syndrome, Craniofacial Abnormalities, Congenital, Rare Diseases, Cortical, nuclear pore complex, Receptors, Genetics, 2.1 Biological and endogenous factors, Humans, Developmental, restriction of polyomavirus replication, FAM111A, Cell Nucleus, Bone Diseases, Developmental, Kenny–, Biological Sciences, Hyperostosis, Virus, Hyperostosis, Cortical, Congenital, Caffey syndrome, Infectious Diseases, Osteocraniostenosis, Biochemistry and cell biology, Receptors, Virus, Biochemistry and Cell Biology, Bone Diseases, Developmental Biology
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