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Molecular analysis of a spontaneous dystrophin 'knockout' dog

Lookup NU author(s): Dr Louise VB Anderson

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Abstract

We have determined the molecular basis for skeletal myopathy and dilated cardiomyopathy in two male German short-haired pointer (GSHP) littermates. Analysis of skeletal muscle demonstrated a complete absence of dystrophin on Western blot analysis. PCR analysis of genomic DNA revealed a deletion encompassing the entire dystrophin gene. Molecular cytogenetic analysis of lymphocytes from the dam and both dystrophic pups confirmed a visible deletion in the p21 region of the affected canine X chromosome. Utrophin is up-regulated in the skeletal muscle, but does not appear to ameliorate the dystrophic canine phenotype. This new canine model should further our understanding of the physiological and biochemical processes in Duchenne muscular dystrophy. Copyright (C) 1999 Elsevier Science B.V.

Publication metadata

Author(s): Schatzberg SJ, Olby NJ, Breen M, Anderson LVB, Langford CF, Dickens HF, Wilton SD, Zeiss CJ, Binns MM, Kornegay JN, Morris GE, Sharp NJH

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 1999

Volume: 9

Issue: 5

Pages: 289-295

Print publication date: 01/07/1999

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier

URL: http://dx.doi.org/10.1016/S0960-8966(99)00011-5

DOI: 10.1016/S0960-8966(99)00011-5

PubMed id: 10407848

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