A brilliant breakthrough in OI type V

Lazarus, S., Moffatt, P., Duncan, E.L., & Thomas, G.P. (2014) A brilliant breakthrough in OI type V. Osteoporosis International, 25(2), pp. 399-405.

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Abstract

Interferon-induced transmembrane protein 5 or bone-restricted i ifitm-like gene (Bril) was first identified as a bone gene in 2008, although no in vivo role was identified at that time. A role in human bone has now been demonstrated with a number of recent studies identifying a single point mutation in Bril as the causative mutation in osteogenesis imperfecta type V (OI type V). Such a discovery suggests a key role for Bril in skeletal regulation, and the completely novel nature of the gene raises the possibility of a new regulatory pathway in bone. Furthermore, the phenotype of OI type V has unique and quite divergent features compared with other forms of OI involving defects in collagen biology. Currently it appears that the underlying genetic defect in OI type V may be unrelated to collagen regulation, which also raises interesting questions about the classification of this form of OI. This review will discuss current knowledge of OI type V, the function of Bril, and the implications of this recent discovery.

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3 citations in Web of Science®

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ID Code: 94183
Item Type: Journal Article
Refereed: Yes
Keywords: Bril, Hyperplastic callus, IFITM, Interosseous membrane calcification, Next generation sequencing, Osteogenesis imperfecta, bril protein, membrane protein, unclassified drug, IFIT5 protein, human, tumor protein, disease classification, gene, gene mutation, genetic association, human, osteogenesis imperfecta type v, phenotype, priority journal, review, amino acid sequence, genetics, molecular genetics, mutation, physiology, sequence alignment, Humans, Molecular Sequence Data, Neoplasm Proteins
DOI: 10.1007/s00198-013-2465-8
ISSN: 1433-2965
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2014 Springer International Publishing AG
Deposited On: 29 Mar 2016 04:57
Last Modified: 30 Mar 2016 01:23

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