Article
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.
Human molecular genetics - 15 May 2007
Ho Matthew S P, Tsang Kwok Yeung, Lo Rebecca L K, Susic Miki, Mäkitie Outi, Chan Tori W Y, Ng Vivian C W, Sillence David O, Boot-Handford Raymond P, Gibson Gary, Cheung Kenneth M C, Cole William G, Cheah Kathryn S E, Chan Danny
Abstract excerpt
Missense, nonsense and frame-shift mutations in the collagen X gene (COL10A1) result in metaphyseal chondrodysplasia type Schmid (MCDS). Complete degradation of mutant COL10A1 mRNA by nonsense-mediated decay in human MCDS cartilage implicates haploinsufficiency in the pathogenesis for nonsense mutations in vivo. However, the mechanism is unclear in situations where the mutant mRNA persist. We show that...
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