Cited by 1,089Genetic Neurodegenerative DiseasesGenetic factors in colorectal cancerGenetics and Neurodevelopmental Disorders

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Trinucleotide repeat length instability and age of onset in Huntington's disease

Duyao, M., Ambrose, C., Myers, R., Novelletto, A., Persichetti, F., Frontali, M., Folstein, S., Ross, C., Franz, M., Abbott, M., Gray, J., Conneally, P., Young, A., Penney, J., Hollingsworth, Z., Shoulson, I., Lazzarini, A., Falek, A., Koroshetz, W., Sax, D., Bird, E., Vonsattel, J., Bonilla, E., Alvir, J., Bickham Conde, J., Cha, J.-H., Dure, L., Gomez, F., Ramos, M., Sanchez-Ramos, J., Snodgrass, S., de Young, M., Wexler, N., Moscowitz, C., Penchaszadeh, G., MacFarlane, H., Anderson, M., Jenkins, B., Srinidhi, J., Barnes, G., Gusella, J., MacDonald, M.·1993·Nature Genetics

DOI 10.1038/ng0893-387

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Abstract

The initial observation of an expanded and unstable trinucleotide repeat in the Huntington's disease gene has now been confirmed and extended in 150 independent Huntington's disease families. HD chromosomes contained 37-86 repeat units, whereas normal chromosomes displayed 11-34 repeats. The HD repeat length was inversely correlated with the age of onset of the disorder. The HD repeat was unstable in more than 80% of meiotic transmissions showing both increases and decreases in size with the largest increases occurring in paternal transmissions. The targeting of spermatogenesis as a particular source of repeat instability is reflected in the repeat distribution of HD sperm DNA. The analysis of the length and instability of individual repeats in members of these families has profound implications for presymptomatic diagnosis.

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“The expanded HTT CAG repeat is highly unstable both in the germline and in somatic tissues [6–13].”
Background
Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes
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Self-citation

Authors: Duyao, M., Ambrose, C., Myers, R., Novelletto, A., Persichetti, F., Frontali, M., Folstein, S., Ross, C., Franz, M., Abbott, M., Gray, J., Conneally, P., Young, A., Penney, J., Hollingsworth, Z., Shoulson, I., Lazzarini, A., Falek, A., Koroshetz, W., Sax, D., Bird, E., Vonsattel, J., Bonilla, E., Alvir, J., Bickham Conde, J., Cha, J.-H., Dure, L., Gomez, F., Ramos, M., Sanchez-Ramos, J., Snodgrass, S., de Young, M., Wexler, N., Moscowitz, C., Penchaszadeh, G., MacFarlane, H., Anderson, M., Jenkins, B., Srinidhi, J., Barnes, G., Gusella, J., & MacDonald, M.
Affiliations: Massachusetts General Hospital (US)
Boston University (US)
University of Rome Tor Vergata (IT)
Johns Hopkins University (US)
Indiana University (US)
University of Rochester Medicine (US)
Rutgers, The State University of New Jersey (US)
Emory University (US)
Harvard University (US)
Universidad del Zulia (VE)
Long Island Jewish Medical Center (US)
Kennedy Krieger Institute (US)
Hospital Virgen del Camino (ES)
University of Mississippi Medical Center (US)
Hereditary Disease Foundation (US)
ORCID: Myers, R.
Novelletto, A.
Persichetti, F.
Frontali, M.
Ross, C.
Shoulson, I.
Koroshetz, W.
Bonilla, E.
Dure, L.
Snodgrass, S.
Wexler, N.
Gusella, J.
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 1993-08
Volume: 4
Issue: 4
Pages: 387-392
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng0893-387
OpenAlex: W1994285647
Cited by: 1,089
References: 35
Citations by year: 2026: 17 · 2025: 27 · 2024: 37 · 2023: 23 · 2022: 39 · 2021: 42 · 2020: 36 · 2019: 38 · 2018: 35 · 2017: 42 · 2016: 26 · 2015: 35 · 2014: 31 · 2013: 39 · 2012: 47
FWCI: 17.83
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health (5r01ns017978-06)
National Institute of Neurological Disorders and Stroke (NS17978, NS16375, NS 16367)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: Huntington's disease, trinucleotide repeat expansion, repeat instability, age of onset, paternal transmission, spermatogenesis, presymptomatic diagnosis, repeat length
MeSH terms: Adult, Age Factors, Female, Genetic Carrier Screening, Humans, Huntington Disease, Genetic Linkage, Male, Middle Aged, Pedigree, Repetitive Sequences, Nucleic Acid, Spermatozoa, Linkage Disequilibrium

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Trinucleotide repeat length instability and age of onset in Huntington's disease

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