Alternative dystrophin gene transcripts in golden retriever muscular dystrophy Export

@article{citeulike:2971077, abstract = {Golden retriever muscular dystrophy (GRMD), the canine model of Duchenne muscular dystrophy (DMD), is caused by a splice site mutation in the dystrophin gene. This mutation predicts a premature termination codon in exon 8 and a peptide that is 5\% the size of normal dystrophin. Western blot analysis of skeletal muscle from GRMD dogs reveals a slightly truncated 390-kD protein that is approximately 91\% the size of normal dystrophin. This 390-kD dystrophin suggests that GRMD dogs, like some DMD patients, employ a mechanism to overcome their predicted frameshift. Reverse-transcriptase polymerase chain reaction on GRMD muscle has revealed two in-frame dystrophin transcripts which lack either exons 3-9 or exons 5-12. Both transcripts could be translated into a dystrophin protein of approximately 390 kD. An understanding of how truncated dystrophin is produced in GRMD may allow this mechanism to be manipulated toward a potential therapy for DMD. {\copyright} 1998 John Wiley \& Sons, Inc. Muscle Nerve 21:991-998, 1998.}, address = {College of Veterinary Medicine, North Carolina State University, 4700 Hillsborough Street, Raleigh, North Carolina 27606, USA; Muscular Dystrophy Research Labs, Newcastle General Hospital, Newcastle upon Tyne, United Kingdom; Australian Neuromuscular Research Institute, Medical Center, Nedlands, Western Australia 6009, Australia; College of Veterinary Medicine, University of Missouri-Columbia, Clydesdale Hall, Columbia, Missouri 68211, USA}, author = {Schatzberg, Scott J. and Anderson, Louise V. B. and Wilton, Stephen D. and Kornegay, Joe N. and Mann, Christopher J. and Solomon, Gregory G. and Sharp, Nicholas J. H.}, citeulike-article-id = {2971077}, citeulike-linkout-0 = {http://dx.doi.org/10.1002/(SICI)1097-4598(199808)21:8%3C991::AID-MUS2%3E3.0.CO;2-0}, citeulike-linkout-1 = {http://www3.interscience.wiley.com/cgi-bin/abstract/33085/ABSTRACT}, doi = {10.1002/(SICI)1097-4598(199808)21:8%3C991::AID-MUS2%3E3.0.CO;2-0}, journal = {Muscle \& Nerve}, keywords = {dmd, dystrophin}, number = {8}, pages = {991--998}, posted-at = {2008-07-07 23:11:41}, priority = {2}, title = {Alternative dystrophin gene transcripts in golden retriever muscular dystrophy}, url = {http://dx.doi.org/10.1002/(SICI)1097-4598(199808)21:8%3C991::AID-MUS2%3E3.0.CO;2-0}, volume = {21}, year = {1998} }

TY - JOUR ID - citeulike:2971077 L3 - citeulike-article-id:2971077 N2 - Golden retriever muscular dystrophy (GRMD), the canine model of Duchenne muscular dystrophy (DMD), is caused by a splice site mutation in the dystrophin gene. This mutation predicts a premature termination codon in exon 8 and a peptide that is 5% the size of normal dystrophin. Western blot analysis of skeletal muscle from GRMD dogs reveals a slightly truncated 390-kD protein that is approximately 91% the size of normal dystrophin. This 390-kD dystrophin suggests that GRMD dogs, like some DMD patients, employ a mechanism to overcome their predicted frameshift. Reverse-transcriptase polymerase chain reaction on GRMD muscle has revealed two in-frame dystrophin transcripts which lack either exons 3-9 or exons 5-12. Both transcripts could be translated into a dystrophin protein of approximately 390 kD. An understanding of how truncated dystrophin is produced in GRMD may allow this mechanism to be manipulated toward a potential therapy for DMD. © 1998 John Wiley & Sons, Inc. Muscle Nerve 21:991-998, 1998. IS - 8 JF - Muscle & Nerve AD - College of Veterinary Medicine, North Carolina State University, 4700 Hillsborough Street, Raleigh, North Carolina 27606, USA; Muscular Dystrophy Research Labs, Newcastle General Hospital, Newcastle upon Tyne, United Kingdom; Australian Neuromuscular Research Institute, Medical Center, Nedlands, Western Australia 6009, Australia; College of Veterinary Medicine, University of Missouri-Columbia, Clydesdale Hall, Columbia, Missouri 68211, USA EP - 998 TI - Alternative dystrophin gene transcripts in golden retriever muscular dystrophy VL - 21 SP - 991 KW - dmd KW - dystrophin AU - Schatzberg, Scott AU - Anderson, Louise AU - Wilton, Stephen AU - Kornegay, Joe AU - Mann, Christopher AU - Solomon, Gregory AU - Sharp, Nicholas PY - 1998/// UR - http://dx.doi.org/10.1002/(SICI)1097-4598(199808)21:8%3C991::AID-MUS2%3E3.0.CO;2-0 ER -