Cited by 2,080Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative DiseasesGenetic factors in colorectal cancer

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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

Fu, Ying-Hui, Kuhl, Derek P.A., Pizzuti, Antonio, Pieretti, Maura, Sutcliffe, James S., Richards, Stephen, Verkert, Annemieke J.M.H., Holden, Jeanette J.A., Fenwick, Raymond G., Warren, Stephen T., Oostra, Ben A., Nelson, David L., Caskey, C.Thomas·1991·Cell

DOI 10.1016/0092-8674(91)90283-5

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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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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: Fu, Ying-Hui
Pizzuti, Antonio
Sutcliffe, James S.
Richards, Stephen
Warren, Stephen T.
Nelson, David L.
Venue: Cell
Publisher: Elsevier BV
Published: 1991-12
Volume: 67
Issue: 6
Pages: 1047-1058
ISSN: 0092-8674 (ISSN-L)
DOI: 10.1016/0092-8674(91)90283-5
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
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
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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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

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