Journal article

Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3 ' UTR and corresponds to the position of mutations in schmid metaphyseal chondrodysplasia

Jacqueline T Tan, Friederike Kremer, Susanna Freddi, Katrina M Bell, Shireen R Lamande, John E Bateman

AMERICAN JOURNAL OF HUMAN GENETICS | CELL PRESS | Published : 2008

Abstract

Nonsense-mediated decay (NMD) is a eukaryotic cellular RNA surveillance and quality-control mechanism that degrades mRNA containing premature stop codons (nonsense mutations) that otherwise may exert a deleterious effect by the production of dysfunctional truncated proteins. Collagen X (COL10A1) nonsense mutations in Schmid-type metaphyseal chondrodysplasia are localized in a region toward the 3' end of the last exon (exon 3) and result in mRNA decay, in contrast to most other genes in which terminal-exon nonsense mutations are resistant to NMD. We introduce nonsense mutations into the mouse Col10a1 gene and express these in a hypertrophic-chondrocyte cell line to explore the mechanism of la..

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