A brilliant breakthrough in OI type V
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.
Impact and interest:
Citation counts are sourced monthly from and citation databases.
These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.
Citations counts from theindexing service can be viewed at the linked Google Scholar™ search.
|Item Type:||Journal Article|
|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|
|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|
Repository Staff Only: item control page