Cited by 496Genetic Neurodegenerative DiseasesGenetic factors in colorectal cancerGenetics and Neurodevelopmental Disorders

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Mechanisms of trinucleotide repeat instability during human development

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McMurray, Cynthia T.·2010·Nature Reviews Genetics

DOI 10.1038/nrg2828PMC PMC3175376

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Abstract

Trinucleotide expansion underlies several human diseases. Expansion occurs during multiple stages of human development in different cell types, and is sensitive to the gender of the parent who transmits the repeats. Repair and replication models for expansions have been described, but we do not know whether the pathway involved is the same under all conditions and for all repeat tract lengths, which differ among diseases. Currently, researchers rely on bacteria, yeast and mice to study expansion, but these models differ substantially from humans. We need now to connect the dots among human genetics, pathway biochemistry and the appropriate model systems to understand the mechanism of expansion as it occurs in human disease.

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Authors: McMurray, C. T.
Affiliations: Lawrence Berkeley National Laboratory (US)
Corresponding author: McMurray, Cynthia T.
ORCID: McMurray, Cynthia T.
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2010-10-18
Volume: 11
Issue: 11
Pages: 786-799
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg2828
PMC: PMC3175376
OpenAlex: W1970814720
Cited by: 496
References: 129
Citations by year: 2026: 12 · 2025: 18 · 2024: 30 · 2023: 23 · 2022: 21 · 2021: 29 · 2020: 28 · 2019: 35 · 2018: 41 · 2017: 31 · 2016: 41 · 2015: 38 · 2014: 28 · 2013: 48 · 2012: 42
FWCI: 3.33
Type: journal article
Language: en
Update notices: erratum (2010-11-10)
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Institutes of Health
National Cancer Institute (CA-092584, P01CA092584)
National Institute of General Medical Sciences (GM 066359, R01GM066359)
National Institute of Neurological Disorders and Stroke (NS069177, RC1NS069177, R01NS040738, R01NS060115, R01NS062384, NS 40738, NS060115, NS062384)
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: trinucleotide repeat expansion, repeat instability, human development, DNA repair, DNA replication, model organisms, trinucleotide repeat disorders
MeSH terms: Animals, Female, Humans, Human Development, Male, Models, Biological, Saccharomyces cerevisiae, Spermatogonia, Trinucleotide Repeats, Trinucleotide Repeat Expansion, Chromosomal Instability, Growth and Development, Mice

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Mechanisms of trinucleotide repeat instability during human development

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