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Human Molecular Genetics, 2001, Vol. 10, No. 1 9-16
© 2001 Oxford University Press

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

Gonzalo Blanco1,+, Gary R. Coulton2, Andrew Biggin2, Christopher Grainge2, Jill Moss3, Michael Barrett3, Anne Berquin4, Georges Maréchal4, Michael Skynner5, Peter van Mier6, Athena Nikitopoulou1, Manfred Kraus1, Chris P. Ponting7, Roger M. Mason2 and Steve D.M. Brown1

1MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, Oxon OX11 ORD, UK, 2Molecular Pathology Group, Division of Biomedical Sciences and 3Division of Investigative Sciences, Imperial College School of Medicine, Imperial College of Science, Technology and Medicine, London SW7 2A, UK, 4Departément de Physiologie, Faculté de Médicine, Université de Louvain 5540, 1200 Brussels, Belgium, 5Pfizer Global Research and Development, University of Cambridge Forvie Site, Robinson Way, Cambridge CB2 2QB, UK, 6Department of Anatomy and Neurobiology, Washington University School of Medicine, St Louis, MO 63110, USA and 7MRC Functional Genetics Unit, University of Oxford, Department of Human Anatomy and Genetics, South Parks Road, Oxford OX1 3QX, UK

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.

+ To whom correspondence should be addressed. Tel: +44 1235 834393; Fax: +44 1235 824542; Email: g.blanco@har.mrc.ac.uk


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