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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
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
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Distribution of FMR‐1 and associated microsatellite alleles in a normal Chinese population
Zhong, N., Liu, X., Gou, S., Houck, G. E., Li, S., Dobkin, C., & Brown, W. T. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320510423 · Cited by 50
Elevated Prevalence of 35-44 FMR1 Trinucleotide Repeats in Women With Diminished Ovarian Reserve
Pastore, L. M., Young, S. L., Baker, V. L., Karns, L. B., Williams, C. D., & Silverman, L. M. (2012) · Reproductive Sciences · doi:10.1177/1933719112446074 · Cited by 50
Myhre syndrome: new reports, review, and differential diagnosis
Bürglen, L., Héron, D., Moerman, A., Dieux-Coeslier, A., Bourguignon, J.-P., Bachy, A., Carel, J., Cormier‐Daire, V., Manouvrier‐Hanu, S., & Verloès, A. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.7.546 · Cited by 47
Okray, Z., de Esch, C. E. F., Esch, H. V., Devriendt, K., Claeys, A., Yan, J., Verbeeck, J., Froyen, G., Willemsen, R., de Vrij, F. M. S., et al. (2015) · EMBO Molecular Medicine · doi:10.15252/emmm.201404576 · Cited by 56
Gleicher, N., Weghofer, A., Oktay, K., & Barad, D. H. (2009) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1080/00016340903171058 · Cited by 49
Dynamics of CAG repeat loci revealed by the analysis of their variability
Andrés, A. M., Lao, Ó., Soldevila, M., Calafell, F., & Bertranpetit, J. (2002) · Human Mutation · doi:10.1002/humu.10151 · Cited by 49
Parsons, M. A., Sinden, R. R., & Izban, M. G. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.41.26998 · Cited by 49
Yamakawa‐Kobayashi, K., Ishiguro, H., Arinami, T., Miyazaki, R., & Hamaguchi, H. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.3.189 · Cited by 50
The Fragile X premutation: new insights and clinical consequences
Esch, H. V. (2005) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2005.11.001 · Cited by 51
Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3
McCombie, W. R., Martín-Gallardo, A., Gocayne, J. D., FitzGerald, M. G., Dubnick, M., Kelley, J. M., Castilla, L. H., Liu, L.-I., Wallace, S., Trapp, S., et al. (1992) · Nature Genetics · doi:10.1038/ng0892-348 · Cited by 49
Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening
Handt, M., Epplen, A., Hoffjan, S., Mese, K., Epplen, J. T., & Dekomien, G. (2014) · Molecular and Cellular Probes · doi:10.1016/j.mcp.2014.08.003 · Cited by 48
Sequence variations in the first exon of alpha-galactosidase A.
Davies, J. P., WINCHESTER, B. G., & Malcolm, S. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.8.658 · Cited by 48
den Enden, A. T. J. M. H.-V., Maaswinkel‐Mooij, P. D., Hoogendoorn, E., Willemsen, R., Maat-Kievit, J. A., Losekoot, M., & Oostra, B. A. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.3.253 · Cited by 48
Self-citationMilà, M., Castellvı́-Bel, S., Sánchez, A., Lázaro, C., Villa, M., & Estivill, X. (1996) · Journal of Medical Genetics · doi:10.1136/jmg.33.4.338 · Cited by 48
An assessment of screening strategies for fragile X syndrome in the UK
Pembrey, M. E., Barnicoat, A. J., Carmichael, B., Bobrow, M., & TURNER, G. M. (2001) · Health Technology Assessment · doi:10.3310/hta5070 · Cited by 48
The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing.
Kunst, C. B., Leeflang, E. P., Iber, J. C., Arnheim, N., & Warren, S. T. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.8.627 · Cited by 48
Self-citationMolecular Analysis of Fragile X Syndrome
Basehore, M. J., & Friez, M. J. (2009) · Current Protocols in Human Genetics · doi:10.1002/0471142905.hg0905s63 · Cited by 49
Structural features of trinucleotide repeats associated with DNA expansion
Kovtun, I. V., Goellner, G. M., & McMurray, C. T. (2001) · Biochemistry and Cell Biology · doi:10.1139/o01-101 · Cited by 48
Schmucker, B., Ballhausen, W., & Pfeiffer, R. (1996) · Human Genetics · doi:10.1007/s004390050230 · Cited by 43
Expand Long PCR for fragile X mutation detection
Hecimovic, S. K., Barišić, I., Müller, A., Petković, I., Barić, I., Ligutić, I., & Pavelić, K. (1997) · Clinical Genetics · doi:10.1111/j.1399-0004.1997.tb02535.x · Cited by 48
Kho, M. R., Baker, D., Laayoun, A., & Smith, S. S. (1998) · Journal of Molecular Biology · doi:10.1006/jmbi.1997.1430 · Cited by 48
Chromatin Regulation of DNA Damage Repair and Genome Integrity in the Central Nervous System
Pan, L., Penney, J., & Tsai, L. (2014) · Journal of Molecular Biology · doi:10.1016/j.jmb.2014.08.001 · Cited by 50
Zhou, Y., Lum, J. M., Yeo, G.-H., Kiing, J. S. H., Tay, S. K. H., & Chong, S. S. (2006) · Clinical Chemistry · doi:10.1373/clinchem.2006.068593 · Cited by 47
The microRNA pathway and fragile X mental retardation protein
LI, Y., Lin, L., & Jin, P. (2008) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2008.07.003 · Cited by 49
Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay
Zhou, Y., Law, H.-Y., Boehm, C. D., Yoon, C.-S., Cutting, G. R., Ng, I. S. L., & Chong, S. S. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.012716 · Cited by 47
Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review
Fink, D. A., Nelson, L. M., Pyeritz, R. E., Johnson, J., Sherman, S. L., Cohen, Y., & Elizur, S. E. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00529 · Cited by 47
Larsen, L. A., Grønskov, K., Nørgaard‐Pedersen, B., Brøndum‐Nielsen, K., Hasholt, L., & Vuust, J. (1997) · Human Genetics · doi:10.1007/s004390050552 · Cited by 47
Come FLY with us: toward understanding fragile X syndrome
Zarnescu, D. C., Shan, G., Warren, S. T., & Jin, P. (2005) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2005.00136.x · Cited by 47
Self-citationThe 5′-Untranslated Region of the FMR1 Message Facilitates Translation by Internal Ribosome Entry
Chiang, P.-W., Carpenter, L. E., & Hagerman, P. J. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m105584200 · Cited by 47
Instability versus predictability: the molecular diagnosis of myotonic dystrophy.
Suthers, G. K., Huson, S., & Davies, K. E. (1992) · Journal of Medical Genetics · doi:10.1136/jmg.29.11.761 · Cited by 47
The mutational dynamics of short tandem repeats in large, multigenerational families
Steely, C. J., Watkins, W. S., Baird, L. M., & Jorde, L. B. (2022) · Genome biology · doi:10.1186/s13059-022-02818-4 · Cited by 48
The FRAXopathies: Definition, overview, and update
Pirozzi, F., Tabolacci, E., & Neri, G. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34113 · Cited by 48
Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation
Gerhardt, J., Zaninović, N., Zhan, Q., Madireddy, A., Nolin, S. L., Ersalesi, N., Yan, Z., Rosenwaks, Z., & Schildkraut, C. L. (2014) · The Journal of Cell Biology · doi:10.1083/jcb.201404157 · Cited by 45
Carrier screening in preconception consultation in primary care
Metcalfe, S. A. (2011) · Journal of Community Genetics · doi:10.1007/s12687-011-0071-z · Cited by 48
Effects of race/ethnicity on triple CGG counts in the FMR1 gene in infertile women and egg donors
Gleicher, N., Weghofer, A., & Barad, D. H. (2009) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2009.12.017 · Cited by 46
Inaba, Y., Schwartz, C. E., Bui, M., Li, X., Skinner, C. D., Field, M. J., Wotton, T., Hagerman, R. J., Francis, D. I., Amor, D. J., et al. (2014) · Clinical Chemistry · doi:10.1373/clinchem.2013.217331 · Cited by 46
Clustering of comorbid conditions among women who carry an FMR1 premutation
Allen, E. G., Charen, K. H., Hipp, H. S., Shubeck, L., Amin, A. S., He, W., Hunter, J. E., & Sherman, S. L. (2020) · Genetics in Medicine · doi:10.1038/s41436-019-0733-5 · Cited by 46
Replication Stress Induces Global Chromosome Breakage in the Fragile X Genome
Chakraborty, A., Jenjaroenpun, P., Li, J., El-Hilali, S., McCulley, A., Haarer, B. K., Hoffman, E. A., Belak, A., Thorland, A., Hehnly, H., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.108179 · Cited by 46
Preimplantation genetic diagnosis of Marfan syndrome using multiple displacement amplification
Lledó, B., Ten, J., Galán, F., & Bernabéu, R. (2006) · Fertility and Sterility · doi:10.1016/j.fertnstert.2006.03.036 · Cited by 46
Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study
Amos, J. A., Pratt, V. M., Phansalkar, A. R., Muralidharan, K., Highsmith, W. E., Beck, J. C., Bridgeman, S. J., Courtney, E. M., Epp, L., Ferreira‐Gonzalez, A., et al. (2007) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2008.070105 · Cited by 46
Standardization of PCR amplification for fragile X trinucleotide repeat measurements*
O’Connell, C. D., Atha, D., Jakupciak, J. P., Amos, J. A., & Richie, K. (2002) · Clinical Genetics · doi:10.1034/j.1399-0004.2002.610103.x · Cited by 46
Screening for the fragile X syndrome among the mentally retarded: a clinical study
Vries, B. B. A. D., Mohkamsing, S., van den Ouweland, A. M. W., Mol, E., Gelsema, K., van Rijn, M., Tibben, A., Halley, D. J. J., Duivenvoorden, H. J., Oostra, B. A., et al. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.6.467 · Cited by 44
Self-citationMosialos, G., Hanissian, S. H., Jawahar, S., Vara, L., Kieff, E. D., & Chatila, T. A. (1994) · Journal of Virology · doi:10.1128/jvi.68.3.1697-1705.1994 · Cited by 46
Experience with direct molecular diagnosis of fragile X.
Mulley, J. C., Yu, S., Gedeon, Á. K., Donnelly, A., TURNER, G. M., Loesch, D. Z., Chapman, C. J., Gardner, R. J. M., Richards, R. I., & Sutherland, G. R. (1992) · Journal of Medical Genetics · doi:10.1136/jmg.29.6.368 · Cited by 46
Rehnitz, J., Alcoba, D. D., Brum, I. S., Dietrich, J. E., Youness, B., Hinderhofer, K., Messmer, B., Freis, A., Strowitzki, T., & Germeyer, A. (2018) · Reproductive Biology and Endocrinology · doi:10.1186/s12958-018-0383-5 · Cited by 45
Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome
Yudkin, D. V., Hayward, B. E., Aladjem, M. I., Kumari, D., & Usdin, K. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu006 · Cited by 45
Regional brain volumes changes in adult male FMR1-KO mouse on the FVB strain
Lai, J., Lerch, J. P., Doering, L. C., Foster, J. A., & Ellegood, J. (2016) · Neuroscience · doi:10.1016/j.neuroscience.2016.01.021 · Cited by 46
Pellerin, D., Çaku, A., Fradet, M., Bouvier, P., Dubé, J., & Corbin, F. (2016) · Biomarkers · doi:10.3109/1354750x.2016.1160289 · Cited by 49
Hagerman, R. J. (1996) · Child and Adolescent Psychiatric Clinics of North America · doi:10.1016/s1056-4993(18)30339-0 · Cited by 45
The Human Genome Project and the Future of Medicine
Guyer, M. S. (1993) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpedi.1993.02160350019003 · Cited by 45
Type I bipolar disorder associated with a fragile site on chromosome 1
Turecki, G., Smith, M. D. A. C., & Mari, J. D. J. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320600302 · Cited by 45
Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B.
Michaelis, R. C., Velagaleti, G. V. N., Jones, C., Pivnick, E. K., Phelan, M. C., Boyd, E. R., Tarleton, J. C., Wilroy, R. S., Tunnacliffe, A., & Tharapel, A. T. (1998) · PubMed · Cited by 45
Mechanism of siRNA production from repetitive DNAPreprint
Yang, Q., Ye, Q., & Liu, Y. (2015) · Genes & Development · doi:10.1101/gad.255828.114 · Cited by 45
Gene structure and expression of the 5′-(CGG)n-3′-binding protein (CGGBP1)
Naumann, F., Remus, R., Schmitz, B., & Doerfler, W. (2003) · Genomics · doi:10.1016/s0888-7543(03)00212-x · Cited by 44
New insights into repeat instability
McIvor, E., Polak, U., & Напиерала, М. (2010) · RNA Biology · doi:10.4161/rna.7.5.12745 · Cited by 42
Loesch, D. Z., Bui, M., Hammersley, E., Schneider, A., Storey, E., Stimpson, P., Burgess, T., Francis, D. I., Slater, H. R., Tassone, F., et al. (2014) · Clinical Genetics · doi:10.1111/cge.12347 · Cited by 44
Hunter, J. E., Abramowitz, A. J., Rusin, M. J., & Sherman, S. L. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e31818de6ee · Cited by 44
Bulushev, R. D., Marion, S., Petrova, E., Davis, S. J., Maerkl, S. J., & Rađenović, A. (2016) · Nano Letters · doi:10.1021/acs.nanolett.6b04165 · Cited by 41
Casals, T., Pacheco, P. R., Barreto, C., Giménez, J., Ramos, M., Pereira, S., Pinheiro, J. A., Cobos, N., Curvelo, A., Vázquez, C., et al. (1997) · Human Mutation · doi:10.1002/(sici)1098-1004(1997)10:5 · Cited by 15
Triplet repeats, RNA secondary structure and toxic gain-of-function models for pathogenesis
Galvão, R. P., Mendes-Soares, L., Câmara, J., Jaco, I., & Carmo‐Fonseca, M. (2001) · Brain Research Bulletin · doi:10.1016/s0361-9230(01)00651-7 · Cited by 44
Chakravarti, A. (1992) · Nature Genetics · doi:10.1038/ng0792-237 · Cited by 44
Scott-McKean, J. J., & Costa, A. C. S. (2011) · Learning & Memory · doi:10.1101/lm.024182.111 · Cited by 47
Emerging pharmacologic treatment options for fragile X syndrome
Erickson, C. A., Schaefer, T. L., & Davenport, M. H. (2015) · The Application of Clinical Genetics · doi:10.2147/tacg.s35673 · Cited by 44
Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders
Usdin, K., Hayward, B. E., Kumari, D., Lokanga, R. A., Sciascia, N., & Zhao, X.-N. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00226 · Cited by 45
Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array
Schenkel, L. C., Schwartz, C. E., Skinner, C. D., Rodenhiser, D. I., Ainsworth, P., Paré, G., & Sadiković, B. (2016) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2016.06.005 · Cited by 43
Mechanisms of genetic instability caused by (CGG)n repeats in an experimental mammalian system
Kononenko, A. V., Ebersole, T. A., Vásquez, K. M., & Mirkin, S. M. (2018) · Nature Structural & Molecular Biology · doi:10.1038/s41594-018-0094-9 · Cited by 43
Fragile X Premutation Associated Conditions (FXPAC)
Johnson, K., Herring, J., & Richstein, J. (2020) · Frontiers in Pediatrics · doi:10.3389/fped.2020.00266 · Cited by 43
Weisman-Shomer, P. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.7.1535 · Cited by 44
8 Androgen insensitivity syndrome
Patterson, M., Mcphaul, M., & Hughes, I. (1994) · Baillière s Clinical Endocrinology and Metabolism · doi:10.1016/s0950-351x(05)80258-7 · Cited by 26
Kramer, P. R., Pearson, C. E., & Sinden, R. R. (1996) · Human Genetics · doi:10.1007/s004390050179 · Cited by 43
Cognitive, behavioral, and neuroanatomical assessment of two unrelated male children expressingFRAXE
Abrams, M. T., Doheny, K. F., Mazzocco, M. M. M., Knight, S. J. L., Baumgardner, T. L., Freund, L. S., Davies, K. E., & Reiss, A. L. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970221)74:1 · Cited by 42
Founder effect in a Belgian-Dutch fragile X population
Buyle, S., Reyniers, E., Vits, L., Boulle, K. D., Handig, I., Wuyts, F. L., Deelen, W. H., Halley, D. J. J., Oostra, B. A., & Willems, P. J. (1993) · Human Genetics · doi:10.1007/bf00244471 · Cited by 43
Self-citationNative functions of short tandem repeats
Wright, S. E., & Todd, P. K. (2023) · eLife · doi:10.7554/elife.84043 · Cited by 44
The Fragile X-Associated Tremor Ataxia Syndrome
Tassone, F., & Hagerman, R. J. (2011) · Results and problems in cell differentiation · doi:10.1007/978-3-642-21649-7_18 · Cited by 43
Suhl, J. A., & Warren, S. T. (2015) · Journal of Experimental Neuroscience · doi:10.4137/jen.s25524 · Cited by 43
Self-citationKumari, D., & Usdin, K. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw215 · Cited by 41
Alternative DNA Structures In Vivo: Molecular Evidence and Remaining Questions
Poggi, L., & Richard, G.-F. (2020) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.00110-20 · Cited by 43
Epigenetics in Nucleotide Repeat Expansion Disorders
He, F., & Todd, P. K. (2011) · Seminars in Neurology · doi:10.1055/s-0031-1299786 · Cited by 45
Vries, B. B. A. D., Robinson, H. M., Stolte‐Dijkstra, I., Gi, C. V. T. P., Dijkstra, P. F., van Doorn, J., Halley, D. J. J., Oostra, B. A., Turner, G., & Niermeijer, M. F. (1995) · Journal of Medical Genetics · doi:10.1136/jmg.32.10.764 · Cited by 42
Self-citationPopulation genetics of fragile X: A multiple allele model with variable risk of CGG repeat expansion
Kolehmainen, K. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320510425 · Cited by 42
Gorwood, P. A. P. M., Leboyer, M., Falissard, B., Jay, M., Rouillon, F., & Feingold, J. (1996) · American Journal of Psychiatry · doi:10.1176/ajp.153.9.1173 · Cited by 42
Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?
Boivin, M., & Charlet‐Berguerand, N. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.843014 · Cited by 41
Intron-Mediated RNA Interference and microRNA Biogenesis
Ying, S., & Lin, S.-L. (2008) · Methods in molecular biology · doi:10.1007/978-1-60327-547-7_19 · Cited by 41
Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X
Abrams, L. J., Cronister, A., Brown, W. T., Tassone, F., Sherman, S. L., Finucane, B. M., McConkie‐Rosell, A., Hagerman, R. J., Kaufmann, W. E., Picker, J. D., et al. (2012) · PEDIATRICS · doi:10.1542/peds.2012-0693 · Cited by 48
Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes
Stepniak, B., Kästner, A., Poggi, G., Mitjans, M., Begemann, M., Hartmann, A. M., der Auwera, S. V., Sananbenesi, F., Krueger‐Burg, D., Matuszko, G., et al. (2015) · EMBO Molecular Medicine · doi:10.15252/emmm.201505696 · Cited by 41
Hoyos, L. R., & Thakur, M. (2016) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-016-0854-6 · Cited by 41
Partial FMRP expression is sufficient to normalize neuronal hyperactivity in Fragile X neurons
Graef, J. D., Wu, H., Ng, C., Sun, C., Villegas, V., Qadir, D., Jesseman, K., Warren, S. T., Jaenisch, R., Cacace, A. M., et al. (2019) · European Journal of Neuroscience · doi:10.1111/ejn.14660 · Cited by 42
Self-citationThe FMR1 Gene as Regulator of Ovarian Recruitment and Ovarian Reserve
Gleicher, N., & Barad, D. H. (2010) · Obstetrical & Gynecological Survey · doi:10.1097/ogx.0b013e3181f8bdda · Cited by 41
Biancalana, V., Beldjord, C., Taillandier, A., Szpiro‐Tapia, S., Cusin, V., Gerson, F., Philippe, C., Mandel, J., & The French National Working Group on Fragile X Syndrome (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30237 · Cited by 45
Absence or low number of telomere repeats at junctions of dicentric chromosomes
Wan, T. S. K., Martens, U. M., Poon, S. S. S., Tsao, S., Ha, S., & Lansdorp, P. M. (1999) · Genes Chromosomes and Cancer · doi:10.1002/(sici)1098-2264(199901)24:1 · Cited by 45
Prenatal diagnosis of fragile X syndrome
Willemsen, R., Oosterwijk, J., Los, F. J., GALJAARD, H., & Oostra, B. A. (1996) · The Lancet · doi:10.1016/s0140-6736(05)65388-3 · Cited by 41
Self-citationMyotonic dystrophy—a multigene disorder
Larkin, K., & Fardaei, M. (2001) · Brain Research Bulletin · doi:10.1016/s0361-9230(01)00656-6 · Cited by 41
Trinucleotide repeats and genome variation
Kuhl, D. P. A., & Caskey, C. T. (1993) · Current Opinion in Genetics & Development · doi:10.1016/0959-437x(93)90112-3 · Cited by 41
Self-citationKoorey, D. J., BASHA, N. J., TOMARAS, C., FREIMAN, J., ROBSON, L., & SMITH, A. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.1.71 · Cited by 41
46,XY,18q+/46,XY,18q− mosaicism in a fragile X prenatal diagnosis
Rodríguez‐Revenga, L., Bádenas, C., Madrigal, I., Sánchez, A., Soler, A., Carrió, A., & Milà, M. (2005) · Prenatal Diagnosis · doi:10.1002/pd.1150 · Cited by 41
Ramel, C. (1997) · Environmental Health Perspectives · doi:10.1289/ehp.97105s4781 · Cited by 40
Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers
Cammack, A. J., Atassi, N., Hyman, T. S., van den Berg, L. H., Harms, M. B., Baloh, R. H., Brown, R. H., van Es, M. A., Veldink, J. H., de Vries, B. S., et al. (2019) · Neurology · doi:10.1212/wnl.0000000000008359 · Cited by 46
Discourse Processing in Women with Fragile X Syndrome: Evidence for a Deficit Establishing Coherence
Simon, J. A., Keenan, J. M., Pennington, B. F., Taylor, A. K., & Hagerman, R. J. (2001) · Cognitive Neuropsychology · doi:10.1080/02643290126042 · Cited by 40
Trinucleotide repeats and other microsatellites in yeasts
Richard, G., Hennequin, C., Thierry, A., & Dujon, B. (1999) · Research in Microbiology · doi:10.1016/s0923-2508(99)00131-x · Cited by 40
Genome Analysis and the Human X Chromosome
Mandel, J., Monaco, A. P., Nelson, D. L., Schlessinger, D., & Willard, H. F. (1992) · Science · doi:10.1126/science.1439756 · Cited by 40
Self-citation
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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