Journal Article

The <i>kyphoscoliosis</i> (<i>ky</i>) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein

Gonzalo Blanco, Gary R. Coulton, Andrew Biggin, Christopher Grainge, Jill Moss, Michael Barrett, Anne Berquin, Georges Maréchal, Michael Skynner, Peter van Mier, Athena Nikitopoulou, Manfred Kraus, Chris P. Ponting, Roger M. Mason and Steve D.M. Brown

in Human Molecular Genetics

Volume 10, issue 1, pages 9-16
Published in print January 2001 | ISSN: 0964-6906
Published online January 2001 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/10.1.9
The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation  in a novel muscle-specific protein

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The ky mouse mutant exhibits a primary degenerative myopathy preceding chronic thoraco-lumbar kyphoscoliosis. The histopathology of the ky mutant suggests that Ky protein activity is crucial for normal muscle growth and function as well as the maturation and stabilization of the neuromuscular junction. Muscle hypertrophy in response to increasing demand is deficient in the ky mutant, whereas adaptive fibre type shifts take place. The ky locus has previously been localized to a small region of mouse chromosome 9 and we have now identified the gene and the mutation underlying the kyphoscoliotic mouse. The ky transcript encodes a novel protein that is detected only in skeletal muscle and heart. The identification of the ky gene will allow detailed analysis of the impact of primary myopathy on idiopathic scoliosis in mice and man.

Journal Article.  4132 words.  Illustrated.

Subjects: Genetics and Genomics

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