Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene |
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| Authors: | Mahadevan, Mani S. Amemiya, Chris Jansen, Gert Sabourin, Luc Baird, Stephen Neville, Catherine E. Wormskamp, Nicole Segers, Bart Batzer, Mark Lamerdin, Jane de Jong, Peter Wieringa, Be Korneluk, Robert G. |
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| Affiliation: | 1Department of Microbiology and Immunology, University of Ottawa Ottawa, Canada 2Division of Genetics, Children's Hospital of Eastern Ontario Ottawa, Canada 3Department of Pediatrics, University of Ottawa Canada 4Human Genome Center, Biomedical Sciences Division, Lawrence Livermore National Laboratory Livermore, CA 94550, USA 5Department of Cell Biology and Histology, Faculty of Medical Sciences, University of Nijmegen PO Box 9101, 6500 HB, Nijmegen, The Netherlands |
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| Abstract: | The mutation causing myotonic dystrophy (DM) has recently beenidentified as an unstable CTG trinucleotide repeat located inthe 3' untranslated region of a gene encoding for a proteinwith putative serine-threonine protein kinase activity. In thisreport we present the genomic sequences of the human and murineDM kinase gene. A comparison of these sequences with each otherand with known cDNA sequences from both species, led us to predicta translation initiation codon, as well as determine the organizationof the DM kinase gene. Several polymorphisms within the humanDM kinase gene have been identified, and PCR assays to detecttwo of these are described. The complete sequence and characterizationof the structure of the DM kinase gene, as well as the identificationof novel polymorphisms within the gene, represent an importantstep in a further understanding of the genetics of myotonicdystrophy and the molecular biology of the gene. |
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