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Your search keyword '"Vincent P. Stanton"' showing total 2 results
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1. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Author

Glenn Barnes, James F. Gusella, Francis S. Collins, Annemarie Poustka, S. Youngman, Sarah Baxendale, Duncan Shaw, Richard H. Myers, John Valdes, Barbara Jenkins, Marcy E. MacDonald, Karen M. Draths, Sherryl A.M. Taylor, Gillian P. Bates, Lucio H. Castilla, Alan Buckler, Thomas J. Fielder, John J. Wasmuth, Carol Lin, Lakshmi Srinidhi, Nicole A. Datson, Mabel P. Duyao, Christine Ambrose, Susan F. Kirby, Michael R. Altherr, Manju Swaroop, Peter S. Harper, Zdenek Sedlacek, Marc W. Allard, Mike North, Russell G. Snell, Rita Shiang, David E. Housman, Lawrence W. Elmer, Marianne James, Richard Mott, Kathleen Gillespie, Leslie M. Thompson, Laura Riba-Ramirez, Nancy S. Wexler, Deanna M. Church, Günther Zehetner, Scott A. Strobel, Heather MacFarlane, Anna-Maria Frischauf, Mary Anne Anderson, Hans Lehrach, Michael Conlon O'Donovan, Vincent P. Stanton, Kris Blanchard, Danilo A. Tagle, Lynn Doucette-Stamm, Holger Hummerich, Tracey Holloway, Manish A. Shah, Jennifer L. Wales, Nicolet Groot, and Peter B. Dervan

Subjects
Genetics, education.field_of_study, Huntingtin, Locus (genetics), Biology, medicine.disease, Myotonic dystrophy, Molecular biology, General Biochemistry, Genetics and Molecular Biology, Huntington's disease, medicine, Huntingtin Protein, Dynamic mutation, Atrophin-1, education, Trinucleotide repeat expansion
Abstract

The Huntington's disease (HD) gene has been mapped in 4p16.3 but has eluded identification. We have used haplotype analysis of linkage disequilibrium to spotlight a small segment of 4p16.3 as the likely location of the defect. A new gene, 1715, isolated using cloned trapped exons from the target area contains a polymorphic trinucleotide repeat that is expanded and unstable on HD chromosomes. A (CAG)n repeat longer than the normal range was observed on HD chromosomes from all 75 disease families examined, comprising a variety of ethnic backgrounds and 4p 16.3 haplotypes. The (CAG)n repeat appears to be located within the coding sequence of a predicted ≈348 kd protein that is widely expressed but unrelated to any known gene. Thus, the HD mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype.

Published
1993

2. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member

Author

David E. Housman, Thomas J. Hudson, June Davies, Jean Paul Thirion, Mila E. McCurrach, Vesa Juvonen, Boris V. Zemelman, Deanna M. Church, Alan Buckler, D.J. Shaw, Peggy Shelbourne, Peter S. Harper, Jessica L. Buxton, Vincent P. Stanton, Keith J. Johnson, Steve Crow, S A Rundle, J. David Brook, Hiroyuki Aburatani, Clare Jones, Robert L. Sohn, H G Harley, Russell G. Snell, and Kent W. Hunter

Subjects
Positional cloning, Myotonic Disorder, Molecular Sequence Data, Biology, Myotonic dystrophy, Polymerase Chain Reaction, General Biochemistry, Genetics and Molecular Biology, CELF1 Protein, Proximal myotonic myopathy, chemistry.chemical_compound, medicine, Cyclic AMP, MBNL1, Humans, Myotonic Dystrophy, Amino Acid Sequence, Cloning, Molecular, Genetics, Base Sequence, Myotonin-protein kinase, Chromosome Mapping, medicine.disease, Pedigree, chemistry, Gene Expression Regulation, Dynamic mutation, Protein Kinases, Sequence Alignment
Abstract

Using positional cloning strategies, we have identified a CTG triplet repeat that undergoes expansion in myotonic dystrophy patients. This sequence is highly variable in the normal population. PCR analysis of the interval containing this repeat indicates that unaffected individuals have been 5 and 27 copies. Myotonic dystrophy patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat containing segment up to several kilobase pairs. The CTG repeat is transcribed and is located in the 3' untranslated region of an mRNA that is expressed in tissues affected by myotonic dystrophy. This mRNA encodes a polypeptide that is a member of the protein kinase family.

Published
1992

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