An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy
- 6 March 1992
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 255 (5049), 1256-1258
- https://doi.org/10.1126/science.1546326
Abstract
Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning strategy to identify unstable genetic sequences at the myotonic dystrophy (DM) locus. A highly polymorphic GCT repeat was identified and found to be unstable, with an increased number of repeats occurring in DM patients. In the case of severe congenital DM, the paternal triplet allele was inherited unaltered while the maternal, DM-associated allele was unstable. These studies suggest that the mutational mechanism leading to DM is triplet amplification, similar to that occurring in the fragile X syndrome. The triplet repeat sequence is within a gene (to be referred to as myotonin-protein kinase), which has a sequence similar to protein kinases.Keywords
This publication has 15 references indexed in Scilit:
- Physical mapping and cloning of the proximal segment of the myotonic dystrophy gene regionGenomics, 1992
- Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19qGenomics, 1992
- Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradoxCell, 1991
- Absence of expression of the FMR-1 gene in fragile X syndromeCell, 1991
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromeCell, 1991
- Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting.Journal of Medical Genetics, 1991
- Identification of variable simple sequence motifs in 19q13.2-qter: Markers for the myotonic dystrophy locusGenomics, 1991
- The Protein Kinase Family: Conserved Features and Deduced Phylogeny of the Catalytic DomainsScience, 1988
- Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindredAnnals of Neurology, 1988
- Amino acid sequence of the catalytic subunit of bovine type II adenosine cyclic 3',5'-phosphate-dependent protein kinaseBiochemistry, 1983