Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency
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چکیده
منابع مشابه
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage.
Mutations resulting in a premature termination codon (PTC) are a major cause of inherited disorders, and the majority of these mutant RNA transcripts are subjected to nonsense-mediated mRNA decay (NMD). This RNA surveillance results in reduced mutant allele expression, the extent of which can impact on the clinical severity. The molecular mechanisms of NMD in mammalian cells, its relationship t...
متن کاملCollagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.
To gain insight into the function of type VI collagen, the col6a1 gene was inactivated by targeted gene disruption in the mouse. The homozygous mutants lacked collagen VI in the tissues and showed histological features of myopathy such as fiber necrosis and phagocytosis and a pronounced variation in the fiber diameter. Muscles also showed signs of stimulated regeneration of fibers. Necrotic fib...
متن کاملDominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). UCMD, a severe disorder characterized by congenital muscle weakness, proximal joint contractures and marked distal joint hyperextensibility, has been considered a recessive condition, and homozygous or compound heterozygous mutations have been defined in CO...
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متن کاملCollagen VI-related myopathy
Synonyms Spectrum of phenotypes: Mild: Bethlem myopathy/ benign congenital muscular dystrophy Intermediate: Limb-girdle muscular dystrophy; myosclerosis myopathy Severe: Ullrich myopathy/ congenital atonic sclerotic muscular dystrophy First described by Ullrich in 1930 and Bethlem in 1976 respectively [1]. Caused by mutations in any of the 3 genes which code for collagen type VI synthesis, COL6...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1998
ISSN: 1460-2083
DOI: 10.1093/hmg/7.6.981