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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
Abstract
Fragile X syndrome results from mutations in a (CGG)n repeat found in the coding sequence of the FMR-1 gene. Analysis of length variation in this region in normal individuals shows a range of allele sizes varying from a low of 6 to a high of 54 repeats. Premutations showing no phenotypic effect in fragile X families range in size from 52 to over 200 repeats. All alleles with greater than 52 repeats, including those identified in a normal family, are meiotically unstable with a mutation frequency of one, while 75 meioses of alleles of 46 repeats and below have shown no mutation. Premutation alleles are also mitotically unstable as mosaicism is observed. The risk of expansion during oogenesis to the full mutation associated with mental retardation increases with the number of repeats, and this variation in risk accounts for the Sherman paradox.
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“FXS is caused by mutations in the FMR1 gene, which is located on the X chromosome and whose locus at Xq27.3 coincides with the folate-sensitive fragile site (4, 5).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [5]
Citations
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Metadata
- Authors
- Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., Oostra, B. A., Nelson, D. L., & Caskey, C. T.
- Affiliations
- Howard Hughes Medical Institute (US)
- Queen's University (CA)
- ORCID
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 1991-12
- Volume
- 67
- Issue
- 6
- Pages
- 1047-1058
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2167119720
- Cited by
- 2,080
- References
- 25
- Citations by year
- 2026: 12 · 2025: 23 · 2024: 36 · 2023: 22 · 2022: 31 · 2021: 41 · 2020: 43 · 2019: 37 · 2018: 49 · 2017: 34 · 2016: 65 · 2015: 56 · 2014: 78 · 2013: 68 · 2012: 70
- FWCI
- 58.19
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Human Genome Research Institute (HG00038)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 20521)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- fragile X syndrome, CGG repeat, FMR1 gene, premutation, repeat expansion, meiotic instability, mitotic instability, mosaicism, repeat length variation, oogenesis, intellectual disability
- MeSH terms
- Alleles, Base Sequence, Exons, Fragile X Syndrome, Genes, Humans, Meiosis, Methylation, Molecular Sequence Data, Mosaicism, Oligodeoxyribonucleotides, Pedigree, Polymorphism, Genetic, Repetitive Sequences, Nucleic Acid, Risk Factors, X Chromosome, Restriction Mapping, Polymerase Chain Reaction
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