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Plos Genetics : Er Stress-mediated Apoptosis in a New Mouse Model of Osteogenesis Imperfecta, Volume 4

By Barsh, Greg

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Book Id: WPLBN0003925957
Format Type: PDF eBook :
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Reproduction Date: 2015

Title: Plos Genetics : Er Stress-mediated Apoptosis in a New Mouse Model of Osteogenesis Imperfecta, Volume 4  
Author: Barsh, Greg
Volume: Volume 4
Language: English
Subject: Journals, Science, Genetics
Collections: Periodicals: Journal and Magazine Collection, PLoS Genetics
Publication Date:
Publisher: Plos


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Barsh, G. (n.d.). Plos Genetics : Er Stress-mediated Apoptosis in a New Mouse Model of Osteogenesis Imperfecta, Volume 4. Retrieved from

Description : Osteogenesis imperfecta is an inherited disorder characterized by increased bone fragility, fractures, and osteoporosis, and most cases are caused by mutations affecting the type I collagen genes. Here, we describe a new mouse model for Osteogenesis imperfecta termed Aga2 (abnormal gait 2) that was isolated from the Munich N-ethyl-N-nitrosourea mutagenesis program and exhibited phenotypic variability, including reduced bone mass, multiple fractures, and early lethality. The causal gene was mapped to Chromosome 11 by linkage analysis, and a C-terminal frameshift mutation was identified in the Col1a1 (procollagen type I, alpha 1) gene as the cause of the disorder. Aga2 heterozygous animals had markedly increased bone turnover and a disrupted native collagen network. Further studies showed that abnormal proa1(I) chains accumulated intracellularly in Aga2/þ dermal fibroblasts and were poorly secreted extracellularly. This was associated with the induction of an endoplasmic reticulum stress-specific unfolded protein response involving upregulation of BiP, Hsp47, and Gadd153 with caspases-12 and 3 activation and apoptosis of osteoblasts both in vitro and in vivo. These studies resulted in the identification of a new model for Osteogenesis imperfecta, and identified a role for intracellular modulation of the endoplasmic reticulum stress-associated unfolded protein response machinery toward osteoblast apoptosis during the pathogenesis of disease.


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