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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Fragile X syndrome is caused by mutations in FMR1, which lies on the X chromosome at Xq27.3 and coincides with the folate-sensitive fragile site.
“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]
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 1,143 · see citing works
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 · see citing works
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 · see citing works
Self-citationJeffreys, A. J., Royle, N. J., Wilson, V., & Wong, Z. Y. H. (1988) · Nature · doi:10.1038/332278a0 · Cited by 759 · see citing works
Stark, G. R., & Wahl, G. M. (1984) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.53.070184.002311 · Cited by 583 · see citing works
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 · see citing works
Further segregation analysis of the fragile X syndrome with special reference to transmitting males
Sherman, S. L., Jacobs, P. A., Morton, N. E., Froster‐Iskenius, U., Howard‐Peebles, P. N., Nielsen, K. B., Partington, M. W., Sutherland, G. R., TURNER, G. M., & Watson, M. (1985) · Human Genetics · doi:10.1007/bf00291644 · Cited by 510 · see citing works
Characterization and expression of a cDNA encoding the human androgen receptor.
Tilley, W. D., Marcelli, M., Wilson, J. D., & McPhaul, M. J. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.1.327 · Cited by 476 · see citing works
The marker (X) syndrome: a cytogenetic and genetic analysis
Sherman, S. L., Morton, N. E., Jacobs, P. A., & TURNER, G. M. (1984) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1984.tb00830.x · Cited by 386 · see citing works
Bell, M. V., Hirst, M. C., Nakahori, Y., MacKinnon, R. N., Roche, A., Flint, T. J., Jacobs, P. A., Tommerup, N., Tranebjærg, L., Froster‐Iskenius, U., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90514-y · Cited by 359 · see citing works
[7] Random cloning and sequencing by the M13/dideoxynucleotide chain termination method
Bankier, A. T., Weston, K., & BARRELL, B. G. (1987) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/0076-6879(87)55009-1 · Cited by 278 · see citing works
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis
Vincent, A., Hertz, D., Petit, C., Kretz, C., Oberlé, I., & Mandel, J. (1991) · Nature · doi:10.1038/349624a0 · Cited by 209 · see citing works
Laird, C. D. (1987) · Genetics · doi:10.1093/genetics/117.3.587 · Cited by 188 · see citing works
Population incidence and segregation ratios in the Martin‐Bell syndrome
Webb, T. P., Bundey, S., Thake, A., Todd, J., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320230151 · Cited by 185 · see citing works
Isolation of Sequences that Span the Fragile X and Identification of a Fragile X-Related CpG Island
Heitz, D., Rousseau, F., Devys, D., Saccone, S., Abderrahim, H., Paslier, D. L., Cohen, D., Vincent, A., Toniolo, D., Valle, G. D., et al. (1991) · Science · doi:10.1126/science.2006411 · Cited by 174 · see citing works
The CEPH Consortium Linkage Map of Human Chromosome 13
Bowcock, A. M., Gerken, S. C., Barnes, R. I., Shiang, R., Jabs, E. W., Warren, A. C., Antonarakis, S. E., Retief, A. E., Vergnaud, G., Leppert, M., et al. (1993) · Genomics · doi:10.1006/geno.1993.1215 · Cited by 146 · see citing works
The CEPH consortium linkage map of human chromosome 1
Dracopoli, N. C., O'Connell, P., Elsner, T., Lalouel, J.-M., White, R. L., Buetow, K. H., Nishimura, D. Y., Murray, J. C., Helms, C. A., Mishra, S. K., et al. (1991) · Genomics · doi:10.1016/0888-7543(91)90362-i · Cited by 97 · see citing works
Prevalence of the fragile‐X syndrome in mentally retarded boys in a Swedish county
Gustavson, K., son, H. B. K., Holmgren, G., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320230152 · Cited by 93 · see citing works
CEPH(ヒト多形性研究センター)共同製作ヒト1番染色体連鎖地図
Dracopoli, N. C., O'Connell, P., Buetow, K. H., Nishimura, D. Y., Helms, C. W., Hall, J. M., Wood, J. M. D., Morton, N. E., & Bale, A. E. (1991) · Genomics · Cited by 58 · see citing works
Molecular cloning and analysis of the fragile X region in man
Dietrich, A., Kioschis, P., Monaco, A. P., Gross, B., Korn, B., Williams, S. V., Sheer, D., Heitz, D., Oberie, I., Toniolo, D., et al. (1991) · Nucleic Acids Research · doi:10.1093/nar/19.10.2567 · Cited by 44 · see citing works
Self-citationThe fragile X: progress toward solving the puzzle.
Brown, W. T. (1990) · PubMed · Cited by 41 · see citing works
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Sorted by citations
MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366 · see citing works
Brook, J. D., McCurrach, M. E., Harley, H. G., Buckler, A., Church, D. M., Aburatani, H., Hunter, K. W., Stanton, V. P., Thirion, J., Hudson, T. J., et al. (1992) · Cell · doi:10.1016/0092-8674(92)90154-5 · Cited by 2,754 · see citing works
Pâques, F., & Haber, J. E. (1999) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.63.2.349-404.1999 · Cited by 2,120 · see citing works
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
Kawaguchi, Y., Okamoto, T., Taniwaki, M., Aizawa, M., Inoue, M., Katayama, S., Kawakami, H., Nakamura, S., Nishimura, M., Akiguchi, I., et al. (1994) · Nature Genetics · doi:10.1038/ng1194-221 · Cited by 1,753 · see citing works
The evolutionary dynamics of repetitive DNA in eukaryotes
Charlesworth, B., Sniegowski, P., & Stephan, W. (1994) · Nature · doi:10.1038/371215a0 · Cited by 1,606 · see citing works
An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy
Fu, Y., Pizzuti, A., Fenwick, R. G., King, J., Rajnarayan, S., Dunne, P. W., Dubel, J., Nasser, G. A., Ashizawa, T., de Jong, P., et al. (1992) · Science · doi:10.1126/science.1546326 · Cited by 1,453 · see citing works
Self-citationTrinucleotide Repeat Disorders
Orr, H. T., & Zoghbi, H. Y. (2007) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.29.051605.113042 · Cited by 1,365 · see citing works
Glutamine Repeats and Neurodegeneration
Zoghbi, H. Y., & Orr, H. T. (2000) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.23.1.217 · Cited by 1,311 · see citing works
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
Orr, H. T., Chung, M.-Y., Banfi, S., Kwiatkowski, T. J., Servadio, A., Beaudet, A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. W., & Zoghbi, H. Y. (1993) · Nature Genetics · doi:10.1038/ng0793-221 · Cited by 1,632 · see citing works
Andrew, S. E., Goldberg, Y. P., Kremer, B. P. H., Telenius, H., Theilmann, J., Adam, S., Starr, E. M., Squitieri, F., Lin, B., Kalchman, M. A., et al. (1993) · Nature Genetics · doi:10.1038/ng0893-398 · Cited by 1,135 · see citing works
Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)
Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi, T., et al. (1994) · Nature Genetics · doi:10.1038/ng0194-9 · Cited by 1,109 · see citing works
Trinucleotide repeat length instability and age of onset in Huntington's disease
Duyao, M., Ambrose, C., Myers, R., Novelletto, A., Persichetti, F., Frontali, M., Folstein, S., Ross, C., Franz, M., Abbott, M., et al. (1993) · Nature Genetics · doi:10.1038/ng0893-387 · Cited by 1,089 · see citing works
DNA methylation in health and disease
Robertson, K. D., & Wolffe, A. P. (2000) · Nature Reviews Genetics · doi:10.1038/35049533 · Cited by 1,056 · see citing works
Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function
Bassell, G. J., & Warren, S. T. (2008) · Neuron · doi:10.1016/j.neuron.2008.10.004 · Cited by 1,051 · see citing works
Self-citationFmr1 knockout mice: A model to study fragile X mental retardation
THEDUTCHBELGIANFRAGILEXCONSOR (1994) · Cell · doi:10.1016/0092-8674(94)90569-x · Cited by 1,075 · see citing works
PCR-amplified microsatellites as markers in plant genetics
Morgante, M., & Olivieri, A. M. (1993) · The Plant Journal · doi:10.1046/j.1365-313x.1993.t01-9-00999.x · Cited by 1,018 · see citing works
Ohta, M., Inoue, H., Cotticelli, M. G., Kastury, K., Baffa, R., Palazzo, J., Siprashvili, Z., Mori, M., McCue, P. A., Druck, T., et al. (1996) · Cell · doi:10.1016/s0092-8674(00)81034-x · Cited by 978 · see citing works
Electrochemical Methods for the Analysis of Clinically Relevant Biomolecules
Labib, M., Sargent, E. H., & Kelley, S. O. (2016) · Chemical Reviews · doi:10.1021/acs.chemrev.6b00220 · Cited by 981 · see citing works
Zoghbi, H. Y., & Bear, M. F. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a009886 · Cited by 797 · see citing works
Devys, D., Lutz, Y., Rouyer, N., Bellocq, J., & Mandel, J. (1993) · Nature Genetics · doi:10.1038/ng0893-335 · Cited by 781 · see citing works
Tassone, F., Hagerman, R. J., Taylor, A. K., Gane, L. W., Godfrey, T. E., & Hagerman, P. J. (2000) · The American Journal of Human Genetics · doi:10.1086/302720 · Cited by 775 · see citing works
FMR1 Protein: Conserved RNP Family Domains and Selective RNA Binding
Ashley, C. T., Wilkinson, K. D., Reines, D., & Warren, S. T. (1993) · Science · doi:10.1126/science.7692601 · Cited by 741 · see citing works
Self-citationExpansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
Harley, H. G., Brook, J. D., Rundle, S. A., Crow, S., Reardon, W., Buckler, A., Harper, P. S., Housman, D. E., & Shaw, D. J. (1992) · Nature · doi:10.1038/355545a0 · Cited by 725 · see citing works
Durkin, S. G., & Glover, T. W. (2007) · Annual Review of Genetics · doi:10.1146/annurev.genet.41.042007.165900 · Cited by 715 · see citing works
FMR1 and the fragile X syndrome: Human genome epidemiology review
Crawford, D. C., Acuña, J. M., & Sherman, S. L. (2001) · Genetics in Medicine · doi:10.1097/00125817-200109000-00006 · Cited by 711 · see citing works
Human dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTR
Vandenbergh, D. J., Persico, A. M., Hawkins, A. L., Griffin, C. A., Li, X., Jabs, E. W., & Uhl, G. R. (1992) · Genomics · doi:10.1016/s0888-7543(05)80138-7 · Cited by 708 · see citing works
Penetrance of the Fragile X–Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
Jacquemont, S. (2004) · JAMA · doi:10.1001/jama.291.4.460 · Cited by 687 · see citing works
Weiler, I. J., Irwin, S. A., Klintsova, A. Y., Spencer, C. M., Brazelton, A. D., Miyashiro, K., Comery, T. A., Patel, B., Eberwine, J., & Greenough, W. T. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.10.5395 · Cited by 644 · see citing works
A point mutation in the FMR-1 gene associated with fragile X mental retardation
Boulle, K. D., Verkerk, A. J. M. H., Reyniers, E., Vits, L., Hendrickx, J., Roy, B. V., Bos, F. V. D., de Graaff, E., Oostra, B. A., & Willems, P. J. (1993) · Nature Genetics · doi:10.1038/ng0193-31 · Cited by 624 · see citing works
Self-citationAllele frequencies at microsatellite loci: the stepwise mutation model revisited.
Valdes, A. M., Slatkin, M., & Freimer, N. B. (1993) · Genetics · doi:10.1093/genetics/133.3.737 · Cited by 619 · see citing works
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
Buxton, J. L., Shelbourne, P., Davies, J. L., Jones, C., Tongeren, T. V., Aslanidis, C., de Jong, P., Jansen, G., Anvret, M., Riley, B. P., et al. (1992) · Nature · doi:10.1038/355547a0 · Cited by 617 · see citing works
Microsatellites and their application to population genetic studies
Bruford, M. W., & Wayne, R. K. (1993) · Current Opinion in Genetics & Development · doi:10.1016/0959-437x(93)90017-j · Cited by 607 · see citing works
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
Greco, C. (2002) · Brain · doi:10.1093/brain/awf184 · Cited by 560 · see citing works
Molecular Mechanisms of Fragile X Syndrome: A Twenty-Year Perspective
Santoro, M. R., Bray, S. M., & Warren, S. T. (2012) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-011811-132457 · Cited by 528 · see citing works
Self-citationComparative Genomics and Molecular Dynamics of DNA Repeats in Eukaryotes
Richard, G., Kerrest, A., & Dujon, B. (2008) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.00011-08 · Cited by 549 · see citing works
Primary ovarian insufficiency: a more accurate term for premature ovarian failure
Welt, C. K. (2007) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.03073.x · Cited by 538 · see citing works
Feng, Y., Gutekunst, C.-A., Eberhart, D. E., Yi, H., Warren, S. T., & Hersch, S. M. (1997) · The Journal of Neuroscience · doi:10.1523/jneurosci.17-05-01539.1997 · Cited by 532 · see citing works
Self-citationThe protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein.
Siomi, H., Siomi, M. C., Nussbaum, R. L., & Dreyfuss, G. (1993) · Cell · doi:10.1016/0092-8674(93)90420-u · Cited by 641 · see citing works
The Fragile-X Premutation: A Maturing Perspective
Hagerman, P. J., & Hagerman, R. J. (2004) · The American Journal of Human Genetics · doi:10.1086/386296 · Cited by 520 · see citing works
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
Knight, S. J. L., Flannery, A., Hirst, M. C., Campbell, L. J., Christodoulou, Z., Phelps, S., Pointon, J. J., Middleton-Price, H. R., Barnicoat, A. J., Pembrey, M. E., et al. (1993) · Cell · doi:10.1016/0092-8674(93)90300-f · Cited by 519 · see citing works
Self-citationFeng, Y., Absher, D., Eberhart, D. E., Brown, V., Malter, H. E., & Warren, S. T. (1997) · Molecular Cell · doi:10.1016/s1097-2765(00)80012-x · Cited by 511 · see citing works
Self-citationAssociation of FMR1 repeat size with ovarian dysfunction
Sullivan, A. K., Marcus, M., Epstein, M. P., Allen, E. G., Anido, A., Paquin, J. J., Yadav-Shah, M., & Sherman, S. L. (2004) · Human Reproduction · doi:10.1093/humrep/deh635 · Cited by 499 · see citing works
Mechanisms of trinucleotide repeat instability during human development
McMurray, C. T. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2828 · Cited by 496 · see citing works
Length of uninterrupted CGG repeats determines instability in the FMR1 gene
Eichler, E. E., Holden, J. J. A., Popovich, B. W., Reiss, A. L., Snow, K., Thibodeau, S. N., Richards, C. S., Ward, P. A., & Nelson, D. L. (1994) · Nature Genetics · doi:10.1038/ng0994-88 · Cited by 481 · see citing works
Self-citationGarber, K. B., Visootsak, J., & Warren, S. T. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.61 · Cited by 477 · see citing works
Self-citationA Decade of Molecular Studies of Fragile X Syndrome
O'Donnell, W. T., & Warren, S. T. (2002) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.25.112701.142909 · Cited by 481 · see citing works
Self-citationPositional cloning: Let's not call it reverse anymore
Collins, F. S. (1992) · Nature Genetics · doi:10.1038/ng0492-3 · Cited by 479 · see citing works
Chung, M., Ranum, L. P. W., Duvick, L. A., Servadio, A., Zoghbi, H. Y., & Orr, H. T. (1993) · Nature Genetics · doi:10.1038/ng1193-254 · Cited by 477 · see citing works
Microsatellites for linkage analysis of genetic traits
Hearne, C. M., Ghosh, S., & Todd, J. A. (1992) · Trends in Genetics · doi:10.1016/0168-9525(92)90256-4 · Cited by 469 · see citing works
Fourteen and counting: unraveling trinucleotide repeat diseases
Cummings, C. J. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.6.909 · Cited by 458 · see citing works
Kenneson, A. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.14.1449 · Cited by 456 · see citing works
Siomi, H., Choi, M., Siomi, M. C., Nussbaum, R. L., & Dreyfuss, G. (1994) · Cell · doi:10.1016/0092-8674(94)90232-1 · Cited by 446 · see citing works
Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA
Coffee, B., Keith, K., Albizua, I., Malone, T., Mowrey, J., Sherman, S. L., & Warren, S. T. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.007 · Cited by 436 · see citing works
Self-citationSomatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
Telenius, H., Kremer, B., Goldberg, Y. P., Theilmann, J., Andrew, S. E., Zeisler, J., Adam, S., Greenberg, C., Ives, E. J., Clarke, L. A., et al. (1994) · Nature Genetics · doi:10.1038/ng0494-409 · Cited by 439 · see citing works
Kruglyak, S., Durrett, R. T., Schug, M. D., & Aquadro, C. F. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.18.10774 · Cited by 438 · see citing works
Paulson, H. L. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63233-3.00009-9 · Cited by 426 · see citing works
A de novo convergence of autism genetics and molecular neuroscience
Krumm, N., O’Roak, B. J., Shendure, J., & Eichler, E. E. (2014) · Trends in Neurosciences · doi:10.1016/j.tins.2013.11.005 · Cited by 423 · see citing works
Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles
Nolin, S. L., Brown, W. T., Glicksman, A., Houck, Jr., Gargano, A. D., Sullivan, A., Biancalana, V., Bröndum-Nielsen, K., Hjalgrim, H., Holinski-Feder, E., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/367713 · Cited by 421 · see citing works
The Pathophysiology of Fragile X Syndrome
Penagarikano, O., Mulle, J. G., & Warren, S. T. (2007) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.8.080706.092249 · Cited by 420 · see citing works
Self-citationKoekkoek, S. K. E., Yamaguchi, K., Milojkovic, B. A., Dortland, B. R., Ruigrok, T. J. H., Maex, R., Graaf, W. D., Smit, A. E., VanderWerf, F., Bakker, C. E., et al. (2005) · Neuron · doi:10.1016/j.neuron.2005.07.005 · Cited by 417 · see citing works
Self-citationTriplet Repeat Mutations in Human Disease
Caskey, C. T., Pizzuti, A., Fu, Y., Fenwick, R. G., & Nelson, D. L. (1992) · Science · doi:10.1126/science.1589758 · Cited by 416 · see citing works
Self-citationThe FMR1 premutation and reproduction
Wittenberger, M. D., Hagerman, R. J., Sherman, S. L., McConkie‐Rosell, A., Welt, C. K., Rebar, R. W., Corrigan, E. C., Simpson, J. L., & Nelson, L. M. (2006) · Fertility and Sterility · doi:10.1016/j.fertnstert.2006.09.004 · Cited by 412 · see citing works
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Hinds, H. L., Ashley, C. T., Sutcliffe, J. S., Nelson, D. L., Warren, S. T., Housman, D. E., & Schalling, M. (1993) · Nature Genetics · doi:10.1038/ng0193-36 · Cited by 396 · see citing works
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Ashley, C. T., & Warren, S. T. (1995) · Annual Review of Genetics · doi:10.1146/annurev.ge.29.120195.003415 · Cited by 395 · see citing works
Self-citationBhatt, D. H., Zhang, S., & Gan, W.-B. (2009) · Annual Review of Physiology · doi:10.1146/annurev.physiol.010908.163140 · Cited by 380 · see citing works
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Malik, I., Kelley, C. P., Wang, E. T., & Todd, P. K. (2021) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-021-00382-6 · Cited by 363 · see citing works
Eberhart, D. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.8.1083 · Cited by 390 · see citing works
The role of de novo mutations in the genetics of autism spectrum disorders
Ronemus, M., Iossifov, I., Levy, D., & Wigler, M. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3585 · Cited by 390 · see citing works
A superfolding Spinach2 reveals the dynamic nature of trinucleotide repeat–containing RNA
Strack, R. L., Disney, M. D., & Jaffrey, S. R. (2013) · Nature Methods · doi:10.1038/nmeth.2701 · Cited by 389 · see citing works
Fry, M., & Loeb, L. A. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.18.12797 · Cited by 371 · see citing works
The Pathophysiology of Fragile X (and What It Teaches Us about Synapses)
Bhakar, A. L., Dölen, G., & Bear, M. F. (2012) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-060909-153138 · Cited by 370 · see citing works
Understanding the molecular basis of fragile X syndrome
Jin, P. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.6.901 · Cited by 368 · see citing works
Spada, A. R. L., Roling, D. B., Harding, A. E., Warner, C. L., Spiegel, R., Hausmanowa-Petrusewicz, I., Yee, W.-C., & Fischbeck, K. H. (1992) · Nature Genetics · doi:10.1038/ng1292-301 · Cited by 368 · see citing works
Malamud, D. (1992) · BMJ · doi:10.1136/bmj.305.6847.207 · Cited by 363 · see citing works
Rousseau, F., Rouillard, P., Morel, M. L., Khandjian, E. W., & Morgan, K. (1995) · Europe PMC (PubMed Central) · Cited by 361 · see citing works
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
Kunst, C. B. (1994) · Cell · doi:10.1016/0092-8674(94)90134-1 · Cited by 361 · see citing works
Translational Suppression by Trinucleotide Repeat Expansion at <i>FMR1</i>
Feng, Y., Zhang, F., Lokey, L. K., Chastain, J. L., Lakkis, L., Eberhart, D., & Warren, S. T. (1995) · Science · doi:10.1126/science.7732383 · Cited by 358 · see citing works
Self-citationA Comprehensive Genetic Linkage Map of the Human Genome
NIH/CEPH Collaborative Mapping Group (1992) · Science · doi:10.1126/science.1439770 · Cited by 358 · see citing works
Identification of the gene FMR2, associated with FRAXE mental retardation
Gécz, J., Gedeon, Á. K., Sutherland, G. R., & Mulley, J. C. (1996) · Nature Genetics · doi:10.1038/ng0596-105 · Cited by 357 · see citing works
Tassone, F., Pan, R., Amiri, K. M. A., Taylor, A. K., & Hagerman, P. J. (2007) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2008.070073 · Cited by 350 · see citing works
Tsilfidis, C., MacKenzie, A., Mettler, G., Barceló, J. M., & Korneluk, R. G. (1992) · Nature Genetics · doi:10.1038/ng0692-192 · Cited by 349 · see citing works
Huntington's disease gene (IT15) is widely expressed in human and rat tissues
Li, S.-H., Schilling, G., Young, W. S., Li, X., Margolis, R. L., Stine, O. C., Wagster, M. V., Abbott, M. H., Franz, M. L., Ranen, N. G., et al. (1993) · Neuron · doi:10.1016/0896-6273(93)90127-d · Cited by 347 · see citing works
RNA and microRNAs in fragile X mental retardation
Jin, P., Alisch, R. S., & Warren, S. T. (2004) · Nature Cell Biology · doi:10.1038/ncb1104-1048 · Cited by 344 · see citing works
Self-citationCharacterization and localization of the FMR-1 gene product associated with fragile X syndrome
Verheij, C., Bakker, C. E., de Graaff, E., Keulemans, J., Willemsen, R., Verkerk, A. J. M. H., Galjaard, H., Reuser, A. J. J., Hoogeveen, A. T., & Oostra, B. A. (1993) · Nature · doi:10.1038/363722a0 · Cited by 343 · see citing works
Self-citationFragile X syndrome and autism at the intersection of genetic and neural networks
Belmonte, M. K., & Bourgeron, T. (2006) · Nature Neuroscience · doi:10.1038/nn1765 · Cited by 345 · see citing works
Simple tandem DNA repeats and human genetic disease.
Sutherland, G. R., & Richards, R. I. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.9.3636 · Cited by 335 · see citing works
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics
Bagni, C., Tassone, F., Neri, G., & Hagerman, R. (2012) · Journal of Clinical Investigation · doi:10.1172/jci63141 · Cited by 321 · see citing works
Phosphorylation influences the translation state of FMRP-associated polyribosomes
Ceman, S., O'Donnell, W. T., Reed, M., Patton, S., Pohl, J., & Warren, S. T. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg350 · Cited by 327 · see citing works
Self-citationThe fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2.
Zhang, Y., O'Connor, J. P., Siomi, M. C., Srinivasan, S., Dutra, A., Nussbaum, R. L., & Dreyfuss, G. (1995) · The EMBO Journal · doi:10.1002/j.1460-2075.1995.tb00220.x · Cited by 327 · see citing works
Trinucleotide Repeats: Mechanisms and Pathophysiology
Cummings, C. J., & Zoghbi, H. Y. (2000) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.1.1.281 · Cited by 326 · see citing works
MicroRNAs (miRNAs) in Neurodegenerative Diseases
Nelson, P. T., Wang, W., & Rajeev, B. W. (2008) · Brain Pathology · doi:10.1111/j.1750-3639.2007.00120.x · Cited by 325 · see citing works
Sequence-Specific RNA Binding by a Nova KH Domain
Lewis, H. A., Musunuru, K., Jensen, K. B., Edo, C., Chen, H., Darnell, R. B., & Burley, S. K. (2000) · Cell · doi:10.1016/s0092-8674(00)80668-6 · Cited by 319 · see citing works
Ranum, L. P. W., Schut, L. J., Lundgren, J. K., Orr, H. T., & Livingston, D. M. (1994) · Nature Genetics · doi:10.1038/ng1194-280 · Cited by 322 · see citing works
Microsatellite evolution — evidence for directionality and variation in rate between species
Rubinsztein, D. C., Amos, W., Leggo, J., Goodburn, S. F., Jain, S., Li, S.-H., Margolis, R. L., Ross, C. A., & Ferguson-Smith, M. A. (1995) · Nature Genetics · doi:10.1038/ng0795-337 · Cited by 316 · see citing works
Dynamic mutations: A new class of mutations causing human disease
Richards, R. I., & Sutherland, G. R. (1992) · Cell · doi:10.1016/0092-8674(92)90302-s · Cited by 309 · see citing works
The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm
Reyniers, E., Vits, L., Boulle, K. D., Roy, B. V., van Velzen, D., de Graaff, E., Verkerk, A. J. M. H., Jorens, H. Z. J., Darby, J. K., Oostra, B. A., et al. (1993) · Nature Genetics · doi:10.1038/ng0693-143 · Cited by 303 · see citing works
Self-citationMolecular Basis of Genetic Instability of Triplet Repeats
Wells, R. D. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.6.2875 · Cited by 303 · see citing works
Audiogenic Seizures Susceptibility in Transgenic Mice with Fragile X Syndrome
Musumeci, S. A., Bosco, P., Calabrese, G., Bakker, C., De Sarro, G. B., Elia, M., Ferri, R., & Oostra, B. A. (2000) · Epilepsia · doi:10.1111/j.1528-1157.2000.tb01499.x · Cited by 289 · see citing works
Self-citationTrinucleotide repeats associated with human disease
Mitas, M. (1997) · Nucleic Acids Research · doi:10.1093/nar/25.12.2245 · Cited by 294 · see citing works
Dombrowski, C. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.4.371 · Cited by 289 · see citing works
- 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
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