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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
Open accessAbstract
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, IT15, 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 4p16.3 haplotypes. The (CAG)n repeat appears to be located within the coding sequence of a predicted approximately 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.
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“Huntington’s Disease arises from an expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the HTT gene (formerly IT15) of chromosome 4p16.3, leading to the production of a dysfunctional huntingtin protein (polyQ-HTT) [161,162].”
From The Impact of Neurotoxin Proteins Trafficked by Primary Cilia and Extracellular Vesicles in Neurodegenerative Diseases (2025) · cites this paper as [162]
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“HD is usually confirmed diagnostically through the identification of 36 or more CAG repeats on the short arm of chromosome 4p16.3 in the Huntingtin gene [162].”
From The Impact of Neurotoxin Proteins Trafficked by Primary Cilia and Extracellular Vesicles in Neurodegenerative Diseases (2025) · cites this paper as [162]
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“HD etiology is entirely due to autosomal-dominant HTT mutations with abnormal CAG repeat expansion in exon 1, producing mutant huntingtin protein that aggregates and leads to neurodegeneration (379).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [379]
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“Huntington’s disease (HD) is an inherited disorder caused by a CAG trinucleotide repeat expansion in HTT which leads to progressive motor and cognitive impairment due to the gradual loss of neurons within striatal and cortical brain regions [1].”
From miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement (2015) · cites this paper as [1]
Experimental — accuracy not yet measuredIn the citing paper
“The cause of Huntington's disease, an autosomal dominant neurological disorder, is well established as an abnormal expansion of CAG triplet repeats in exon 1 of the ubiquitously expressed huntingtin ( HTT ) gene, resulting in an elongated polyglutamine (Q) tract in the mutant huntingtin protein (mHTT) (MacDonald et al. , 1993).”
From Microglial depletion prevents extracellular matrix changes and striatal volume reduction in a model of Huntington's disease (2020) · cites this paper as MacDonald et al., 1993
In the citing paper
“In Huntington disease, poly-glutamine-expanded mHTT aggregates and accumulates194”
From PROTAC targeted protein degraders: the past is prologue (2022) · cites this paper as [194]
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Self-citationDuarte, A. I., Sjögren, M., Santos, M. S., Oliveira, C. R., Moreira, P. I., & Björkqvist, M. (2018) · Scientific Reports · doi:10.1038/s41598-018-27121-w · Cited by 25
Strategies to Investigate Ubiquitination in Huntington's Disease
Sap, K. A., & Reits, E. A. (2020) · Frontiers in Chemistry · doi:10.3389/fchem.2020.00485 · Cited by 25
Neurocognitive Phenotypes and Genetic Dissection of Disorders of Brain and Behavior
Congdon, E., Poldrack, R. A., & Freimer, N. B. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.007 · Cited by 22
Age of onset and behavioral manifestations in Huntington's disease: An Enroll‐HD cohort analysis
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Metformin to treat Huntington disease: A pleiotropic drug against a multi-system disorder
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Telomere length analysis on leukocytes derived from patients with Huntington Disease
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The long and the short of aberrant ciliogenesis in Huntington disease
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Mutant Huntingtin Causes a Selective Decrease in the Expression of Synaptic Vesicle Protein 2C
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Ciriegio, A. E., Watson, K. H., Pfalzer, A. C., Hale, L., Huitz, E., Moroz, S., Roth, M. C., Snow, A. L. B., Jones, M. T., Guthrie, C. S., et al. (2022) · Neuropsychology · doi:10.1037/neu0000793 · Cited by 14
Kim, E.-J., Vatsavayai, S., & Seeley, W. W. (2016) · The Behavioral Neurology of Dementia · doi:10.1017/9781139924771.008 · Cited by 7
Mitochondrial Function and Neurodegenerative Diseases
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Danna, R., Kondle, S., Amar, O., Mabourakh, M., Chen, G., Fadol, W. B., & Mohieldin, A. M. (2025) · Biology · doi:10.3390/biology14121787 · Cited by 2
“3 in the Huntingtin gene [162].”
Metadata
- Authors
- MACDONALD, M.
- Affiliations
- Harvard University (US)
- Corresponding author
- MACDONALD, M
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 1993-03
- Volume
- 72
- Issue
- 6
- Pages
- 971-983
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2121642311
- Semantic Scholar
- 47661acc507387c5d4de447493481bb376f88728
- Cited by
- 8,366
- References
- 60
- Citations by year
- 2026: 181 · 2025: 272 · 2024: 303 · 2023: 271 · 2022: 293 · 2021: 361 · 2020: 310 · 2019: 275 · 2018: 341 · 2017: 287 · 2016: 329 · 2015: 290 · 2014: 323 · 2013: 328 · 2012: 313
- FWCI
- 77.80
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- CaltechAUTHORS (California Institute of Technology) (submittedVersion)
- Deep Blue (University of Michigan) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Funders
- W. M. Keck Foundation
- Dana Foundation
- Hereditary Disease Foundation
- Bristol-Myers Squibb
- Wellcome Trust
- National Institutes of Health (5r01ns025631-06)
- Medical Research Council
- National Institute of Neurological Disorders and Stroke (R01NS022031, NS25631, NS 16367, NS22031)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- Huntington's disease, trinucleotide repeat expansion, CAG repeat, IT15 gene, chromosome 4p16.3, haplotype analysis, linkage disequilibrium, repeat instability, fragile X syndrome, myotonic dystrophy, gene mapping
- MeSH terms
- Amino Acid Sequence, Base Sequence, Chromosomes, Human, Pair 4, Cloning, Molecular, Exons, Genes, Humans, Huntington Disease, Molecular Sequence Data, Mutation, Oligodeoxyribonucleotides, Pedigree, Polymorphism, Genetic, Repetitive Sequences, Nucleic Acid, RNA, Messenger, Restriction Mapping, Gene Expression, Polymerase Chain Reaction
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