ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2015
A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation.
Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 40 citations in OpenAlex.
- Osteosarcoma in the Setting of Genetically ConfirmedCase reports in pathology · 2026Article
- Interferon-induced transmembrane proteins: membrane gatekeepers of fusion and infection.Frontiers in cellular and infection microbiology · 2026Review
- Diverging pathomechanisms underlying collagen I-related and MBTPS2-related osteogenesis imperfecta: insights from patient-derived fibroblasts and iPSC-based modelling of bone.Frontiers in endocrinology · 2026Article
- Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.Clinical science (London, England : 1979) · 2025Review
- An inducible mouse model of osteogenesis imperfecta type V reveals aberrant osteogenesis caused by Ifitm5 c.-14C>T mutation.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Article
- Brittle, but not boring: a fresh look at osteogenesis imperfecta type V.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Article
- Identification of human cranio-maxillofacial skeletal stem cells for mandibular development.Science advances · 2025Article
- Update on the Genetics of Osteogenesis Imperfecta.Calcified tissue international · 2024Review
- The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.The Journal of clinical investigation · 2024Article
- Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life.International journal of molecular sciences · 2022Review
- An Update on Animal Models of Osteogenesis Imperfecta.Calcified tissue international · 2022Review
- Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature ReviewBiomedicines · 2022Article
- Curative Cell and Gene Therapy for Osteogenesis Imperfecta.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Review
- The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts.International journal of molecular sciences · 2022Article
- A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report.Calcified tissue international · 2021Article
- The Polygenic and Monogenic Basis of Paediatric Fractures.Current osteoporosis reports · 2021Review
- A novel variant of the IFITM5 gene within the 5'-UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum.Molecular genetics & genomic medicine · 2020Article
- Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.European journal of medical genetics · 2019Article
- Suitability and limitations of mesenchymal stem cells to elucidate human bone illness.World journal of stem cells · 2019Review
- Tissue Morphology and Antigenicity in Mouse and Rat Tibia: Comparing 12 Different Decalcification Conditions.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2019Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Osteogenesis imperfecta (OI) type V is characterized by increased bone fragility, long bone deformities, hyperplastic callus formation, and calcification of interosseous membranes. It is caused by a recurrent mutation in the 5' UTR of the IFITM5 gene (c.-14C > T). This mutation introduces an alternative start codon, adding 5 amino acid residues to the N-terminus of the protein. The mechanism whereby this novel IFITM5 protein causes OI type V is yet to be defined. To address this, we created transgenic mice expressing either the wild-type or the OI type V mutant IFITM5 under the control of an osteoblast-specific Col1a1 2.3-kb promoter. These mutant IFITM5 transgenic mice exhibited perinatal lethality, whereas wild-type IFITM5 transgenic mice showed normal growth and development. Skeletal preparations and radiographs performed on E15.5 and E18.5 OI type V transgenic embryos revealed delayed/abnormal mineralization and skeletal defects, including abnormal rib cage formation, long bone deformities, and fractures. Primary osteoblast cultures, derived from mutant mice calvaria at E18.5, showed decreased mineralization by Alizarin red staining, and RNA isolated from calvaria showed reduced expression of osteoblast differentiation markers such as Osteocalcin, compared with nontransgenic littermates and wild-type mice calvaria, consistent with the in vivo phenotype. Importantly, overexpression of wild-type Ifitm5 did not manifest a significant bone phenotype. Collectively, our results suggest that expression of mutant IFITM5 causes abnormal skeletal development, low bone mass, and abnormal osteoblast differentiation. Given that neither overexpression of the wild-type Ifitm5, as shown in our model, nor knock-out of Ifitm5, as previously published, showed significant bone abnormalities, we conclude that the IFITM5 mutation in OI type V acts in a neomorphic fashion.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.