Cited by 363Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis ResearchGenetics and Neurodevelopmental Disorders

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Molecular mechanisms underlying nucleotide repeat expansion disorders

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Malik, Indranil, Kelley, Chase P., Wang, Eric T., Todd, Peter K.·2021·Nature Reviews Molecular Cell Biology

DOI 10.1038/s41580-021-00382-6PMC PMC9612635

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Abstract

The human genome contains over one million short tandem repeats. Expansion of a subset of these repeat tracts underlies over fifty human disorders, including common genetic causes of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (C9orf72), polyglutamine-associated ataxias and Huntington disease, myotonic dystrophy, and intellectual disability disorders such as Fragile X syndrome. In this Review, we discuss the four major mechanisms by which expansion of short tandem repeats causes disease: loss of function through transcription repression, RNA-mediated gain of function through gelation and sequestration of RNA-binding proteins, gain of function of canonically translated repeat-harbouring proteins, and repeat-associated non-AUG translation of toxic repeat peptides. Somatic repeat instability amplifies these mechanisms and influences both disease age of onset and tissue specificity of pathogenic features. We focus on the crosstalk between these disease mechanisms, and argue that they often synergize to drive pathogenesis. We also discuss the emerging native functions of repeat elements and how their dynamics might contribute to disease at a larger scale than currently appreciated. Lastly, we propose that lynchpins tying these disease mechanisms and native functions together offer promising therapeutic targets with potential shared applications across this class of human disorders.

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See all 363

Authors: Malik, I., Kelley, C. P., Wang, E. T., & Todd, P. K.
Affiliations: University of Michigan (US)
University of Florida (US)
Corresponding author: Todd, Peter K.
ORCID: Malik, Indranil
Kelley, Chase P.
Wang, Eric T.
Todd, Peter K.
Venue: Nature Reviews Molecular Cell Biology
Publisher: Springer Science and Business Media LLC
Published: 2021-06-17
Volume: 22
Issue: 9
Pages: 589-607
ISSN: 1471-0072 (ISSN-L)
1471-0080
DOI: 10.1038/s41580-021-00382-6
PMC: PMC9612635
OpenAlex: W3170696603
Cited by: 363
References: 286
Citations by year: 2026: 71 · 2025: 77 · 2024: 92 · 2023: 66 · 2022: 48 · 2021: 9
FWCI: 8.06
Type: journal article
Language: en
Update notices: correction (2021-07-06)
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Reviews Molecular Cell Biology (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: U.S. Department of Veterans Affairs (I01 BX004842)
National Institute on Aging (R01AG058636)
National Institute of Neurological Disorders and Stroke (R01NS112291, R01NS086810, R01NS114253, R01NS099280)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD104463)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: microsatellite markers, C9orf72, amyotrophic lateral sclerosis, frontotemporal dementia, Huntington's disease, myotonic dystrophy, fragile X syndrome, transcriptional repression, repeat-associated non-AUG translation, age of onset, tissue specificity, therapeutic target
MeSH terms: R-Loop Structures, Animals, Humans, Mutation, Organ Specificity, RNA, Protein Biosynthesis, RNA-Binding Proteins, Neurodegenerative Diseases, Gene Silencing, DNA Repeat Expansion, Genomic Instability

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