The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
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.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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
Cites
Hypervariable ‘minisatellite’ regions in human DNA
Jeffreys, A. J., Wilson, V., & Thein, S. L. (1985) · Nature · doi:10.1038/314067a0 · Cited by 3,771
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Self-citationInstability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome
Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M. F., & Mandel, J. L. (1991) · Science · doi:10.1126/science.252.5009.1097 · Cited by 1,499
Absence of expression of the FMR-1 gene in fragile X syndrome
Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476
Self-citationDNA typing and genetic mapping with trimeric and tetrameric tandem repeats.
Edwards, A., Civitello, A. B., Hammond, H. A., & Caskey, C. T. (1991) · Europe PMC (PubMed Central) · Cited by 1,147
Self-citationMapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
Kremer, E., Pritchard, M., Lynch, M., Yu, S., Holman, K., Baker, E., Warren, S., Schlessinger, D., Sutherland, G., & Richards, R. (1991) · Science · doi:10.1126/science.1675488 · Cited by 929
Self-citationFragile X Genotype Characterized by an Unstable Region of DNA
Yu, S., Pritchard, M. A., Kremer, E. J., Lynch, M., Nancarrow, J. K., Baker, E. G., Holman, K., Mulley, J. C., Warren, S. T., Schlessinger, D., et al. (1991) · Science · doi:10.1126/science.252.5009.1179 · Cited by 793
Self-citationJeffreys, A. J., Royle, N. J., Wilson, V., & Wong, Z. Y. H. (1988) · Nature · doi:10.1038/332278a0 · Cited by 759
Stark, G. R., & Wahl, G. M. (1984) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.53.070184.002311 · Cited by 583
Centre d'Etude du polymorphisme humain (CEPH): Collaborative genetic mapping of the human genome
Dausset, J. B., Cann, H. M., Cohen, D., Lathrop, M. G., Lalouel, J.-M., & White, R. L. (1990) · Genomics · doi:10.1016/0888-7543(90)90491-c · Cited by 575
Cited by
Sorted by citations
Items 1,001–1,005 of 1,005
Orsmond, G. I., Seltzer, M. M., Krauss, M. W., & Hong, J. (2003) · American Journal on Mental Retardation · doi:10.1352/0895-8017(2003)108
Self-citationTurner (1996) · doi:10.1002/(sici)1096-8628(19960712)64:1
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
