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Trinucleotide repeat expansion and human disease. [PDF]

ELECTROPHORESIS, 1995
Eleven human loci, responsible for nine diseases, exhibit an unprecedented form of mutation: the expansion of trinucleotide repeats. Normally polymorphic CGG/CCG or CAG/CTG repeats (means of approximately 20 triplets) are found enlarged to either 2-3 or ...
C. T. Ashley, S. Warren
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Trinucleotide repeat expansion in neurological disease

Annals of Neurology, 1994
AbstractExpansion of trincleotide repeats is now recognized as a major cause of neurological disease. At least seven disorders result from trinucleotide repeat expansion: X‐linked spinal and bulbar muscular atrophy (SBMA), two fragile×syndromes of mental retardation (FRAXA and FRAXE), myotonic dystrophy, Huntington's disease, spinocerebellar ataxia ...
A. L. La Spada, H. Paulson, K. Fischbeck
semanticscholar   +4 more sources

Translational suppression by trinucleotide repeat expansion at FMR1

Science, 1995
Fragile X syndrome is the result of the unstable expansion of a trinucleotide repeat in the 5′-untranslated region of the FMR1 gene. Fibroblast subclones from a mildly affected patient, each containing stable FMR1 alleles with 57 to 285 CGG repeats, were shown to exhibit normal steady-state ...
Yue Feng, Fuping Zhang, L. K. Lokey, J. L. Chastain, L. Lakkis, D. Eberhart, S. Warren   +6 more
semanticscholar   +4 more sources

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

Nature Genetics, 1993
The molecular analysis of a specific CAG repeat sequence in the Huntington's disease gene in 440 Huntington's disease patients and 360 normal controls reveals a range of 30-70 repeats in affected individuals and 9-34 in normals. We find significant negative correlations between the number of repeats on the HD chromosome and age at onset, regardless of ...
R. Snell, J. MacMillan, J. Cheadle, I. Fenton, L. Lazarou, P. Davies, M. MacDonald, J. Gusella, P. Harper, D. Shaw   +9 more
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Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP

Nature Genetics, 1997
Myotonic dystrophy, or dystrophia myotonica (DM), is an autosomal dominant multisystem disorder caused by the expansion of a CTG trinucleotide repeat in the 3' untranslated region of the DMPK protein kinase gene on chromosome 19q13.3 (refs 1-3). Although the DM mutation was identified more than five years ago, the pathogenic mechanisms underlying this ...
T. Klesert, A. Otten, T. Bird, S. Tapscott   +3 more
semanticscholar   +3 more sources

Trinucleotide Repeat Expansion and Neuropsychiatric Disease

Archives of General Psychiatry, 1999
Trinucleotide, or triplet, repeats consist of 3 nucleotides consecutively repeated (e.g., CCG CCG CCG CCG CCG) within a region of DNA, a not uncommon motif in the genome of humans and other species. In 1991, a new type of genetic mutation was discovered, known as a dynamic or expansion mutation, in which the number of triplets in a repeat increases and
Christopher A. Ross, Russell L. Margolis, Melvin G. McInnis, Adam Rosenblatt   +3 more
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Trinucleotide repeat expansions in neurological disease

Current Opinion in Neurobiology, 1993
During the past year, new examples of human neurological disease have been discovered that have an unprecedented type of mutation as their cause: the remarkable expansion of trinucleotide repeats. These triplet repeats are normally polymorphic and exonic, though not always coding.
Stephen T. Warren, David L. Nelson, David L. Nelson   +2 more
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Trinucleotide repeat expansions: timing is everything

Trends in Molecular Medicine, 2003
The expansion of trinucleotide repeats is known to cause a growing number of human diseases. However, the mechanism and timing of expansions are poorly understood. Recent studies indicate that expansion mutations occur by multiple pathways during both meiotic and mitotic divisions, and at various stages of cell division.
Dilip K. Nag, Dilip K. Nag
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Myotonic dystrophy with no trinucleotide repeat expansion

Annals of Neurology, 1994
AbstractWe report 3 patients from 2 families with myotonic dystrophy who do not show an abnormal expansion of CTG trinucleotide repeats within the myotonic dystrophy gene. Characteristic features of myotonic dystrophy in these patients were frontal balding, cataracts, cardiac conduction abnormalities, and testicular atrophy with myotonia and muscle ...
Richard T. Moxley, Charles A. Thornton, Robert C. Griggs   +2 more
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