CGG repeat in the FMR1 gene: size matters

Willemsen, R; Levenga, J; Oostra, BA

doi:10.1111/j.1399-0004.2011.01723.x

Cited by 185Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative DiseasesGenomics and Rare Diseases

CGG repeat in the FMR1 gene: size matters

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Willemsen, R, Levenga, J, Oostra, BA·2011·Clinical Genetics

DOI 10.1111/j.1399-0004.2011.01723.xPMC PMC3151325

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Abstract

The FMR1 gene contains a CGG repeat present in the 5'-untranslated region which can be unstable upon transmission to the next generation. The repeat is up to 55 CGGs long in the normal population. In patients with fragile X syndrome (FXS), a repeat length exceeding 200 CGGs (full mutation: FM) generally leads to methylation of the repeat and the promoter region, which is accompanied by silencing of the FMR1 gene. The absence of FMR1 protein, FMRP, seen in FM is the cause of the mental retardation in patients with FXS. The premutation (PM) is defined as 55-200 CGGs. Female PM carriers are at risk of developing primary ovarian insufficiency. Elderly PM carriers might develop a progressive neurodegenerative disorder called fragile X-associated tremor/ataxia syndrome (FXTAS). Although arising from the mutations in the same gene, distinct mechanisms lead to FXS (absence of FMRP), FXTAS (toxic RNA gain-of-function) and FXPOI. The pathogenic mechanisms thought to underlie these disorders are discussed. This review gives insight on the implications of all possible repeat length categories seen in fragile X families.

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FMRP is highly expressed in the brain and acts as a translational repressor of several signaling pathways at the synaptic level.
“FMRP is highly expressed in the brain and acts as translational repressor of several signaling pathways at the synaptic level (Willemsen et al. 2011).”
From Dysfunctional Autism Risk Genes Cause Circuit-Specific Connectivity Deficits With Distinct Developmental Trajectories (2018) · cites this paper as Willemsen et al. 2011

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Pietrobono, R., Tabolacci, E., Zalfa, F., Zito, I., Terracciano, A., Moscato, U., Bagni, C., Oostra, B., Chiurazzi, P., & Neri, G. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi024 · Cited by 130 · see citing works
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Developmental expression of FMRP in the astrocyte lineage: Implications for fragile X syndrome.
Pacey, L. K. K., & Doering, L. C. (2007) · Glia · doi:10.1002/glia.20573 · Cited by 128 · see citing works
Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS)
Dam, D. V., Errijgers, V., Kooy, R. F., Willemsen, R., Mientjes, E., Oostra, B. A., & Deyn, P. P. D. (2005) · Behavioural Brain Research · doi:10.1016/j.bbr.2005.03.007 · Cited by 127 · see citing works
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Mechanism-based approaches to treating fragile X
Dölen, G., Carpenter, R. L., Ocain, T. D., & Bear, M. F. (2010) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2010.02.008 · Cited by 124 · see citing works
AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome
Levenga, J., Hayashi, S., de Vrij, F. M. S., Koekkoek, S. K. E., van der Linde, H. C., Nieuwenhuizen, I. M., Song, C., Buijsen, R. A. M., Pop, A. S., Gomez‐Mancilla, B., et al. (2011) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.01.022 · Cited by 122 · see citing works
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TheDrosophilaFragile X Mental Retardation Gene Regulates Sleep Need
Bushey, D., Tononi, G., & Cirelli, C. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.4830-08.2009 · Cited by 119 · see citing works
The FMR1 gene and fragile X‐associated tremor/ataxia syndrome
Brouwer, J. R., Willemsen, R., & Oostra, B. A. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30910 · Cited by 113 · see citing works
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The fragile X syndrome: From molecular genetics to neurobiology
Willemsen, R., Oostra, B. A., Bassell, G. J., & Dictenberg, J. B. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20010 · Cited by 106 · see citing works
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The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group
Kamm, C., Healy, D. G., Quinn, N. P., Wüllner, U., Möller, J. C., Schöls, L. J., Geser, F., Bürk, K., Børglum, A. D., Pellecchia, M. T., et al. (2005) · Brain · doi:10.1093/brain/awh535 · Cited by 106 · see citing works
Generation and Characterization of Fmr1 Knockout Zebrafish
den Broeder, M. J., van der Linde, H., Brouwer, J. R., Oostra, B. A., Willemsen, R., & Ketting, R. F. (2009) · PLoS ONE · doi:10.1371/journal.pone.0007910 · Cited by 103 · see citing works
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Ectopic expression of CGG containing mRNA is neurotoxic in mammals
Hashem, V. I., Galloway, J. N., Mori, M., Willemsen, R., Oostra, B. A., Paylor, R. E., & Nelson, D. L. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp182 · Cited by 102 · see citing works
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CGG‐repeat length and neuropathological and molecular correlates in a mouse model for fragile X‐associated tremor/ataxia syndrome
Brouwer, J. R., Huizer, K., Severijnen, L.-A. W. F. M., Hukema, R. K., Berman, R. F., Oostra, B. A., & Willemsen, R. (2008) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2008.05747.x · Cited by 99 · see citing works
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Histone Deacetylases Suppress CGG Repeat–Induced Neurodegeneration Via Transcriptional Silencing in Models of Fragile X Tremor Ataxia Syndrome
Todd, P. K., Oh, S. Y., Krans, A., Pandey, U. B., Prospero, N. A. D., Min, K., Taylor, J. P., & Paulson, H. L. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001240 · Cited by 99 · see citing works
Testicular and Pituitary Inclusion Formation in Fragile X Associated Tremor/Ataxia Syndrome
Greco, C., Soontrapornchai, K., Wirojanan, J., Gould, J. E., Hagerman, P. J., & Hagerman, R. J. (2007) · The Journal of Urology · doi:10.1016/j.juro.2006.11.097 · Cited by 99 · see citing works
Fragile X Syndrome: Diagnosis, Treatment, and Research
Schmidt, M. A. (1997) · JAMA · doi:10.1001/jama.1997.03540380083039 · Cited by 95 · see citing works
A mouse model of the fragile X premutation: Effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis
Qin, M., Entezam, A., Usdin, K., Huang, T., Liu, Z., Hoffman, G. E., & Smith, C. B. (2011) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.01.008 · Cited by 91 · see citing works
Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome
Greco, C. M., Navarro, C. S., Hunsaker, M. R., Maezawa, I., Shuler, J. F., Tassone, F., Delany, M., Au, J. W., Berman, R. F., Jin, L.-W., et al. (2011) · Molecular Autism · doi:10.1186/2040-2392-2-2 · Cited by 90 · see citing works
Understanding fragile X syndrome: insights from animal models
Bakker, C. E., & Oostra, B. A. (2003) · Cytogenetic and Genome Research · doi:10.1159/000072845 · Cited by 87 · see citing works
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Potential therapeutic interventions for fragile X syndrome
Levenga, J., de Vrij, F. M. S., Oostra, B. A., & Willemsen, R. (2010) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2010.08.005 · Cited by 87 · see citing works
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Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development
Cunningham, C. L., Martínez‐Cerdeño, V., Porras, E. N., Prakash, A. N., Angelastro, J. M., Willemsen, R., Hagerman, P. J., Pessah, I. N., Berman, R. F., & Noctor, S. C. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq432 · Cited by 79 · see citing works
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Fibroblast phenotype in male carriers of FMR1 premutation alleles
Garcia-Arocena, D., Yang, J. E., Brouwer, J. R., Tassone, F., Iwahashi, C., Berry‐Kravis, E., Goetz, C. G., Sumis, A. M., Zhou, L., Nguyen, D. V., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp497 · Cited by 76 · see citing works
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Progressive spatial processing deficits in a mouse model of the fragile X premutation.
Hunsaker, M. R., Wenzel, H. J., Willemsen, R., & Berman, R. F. (2009) · Behavioral Neuroscience · doi:10.1037/a0017616 · Cited by 74 · see citing works
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Premature Ovarian Failure and the FMR1 Gene
Murray, A. (2000) · Seminars in Reproductive Medicine · doi:10.1055/s-2000-13476 · Cited by 68 · see citing works
Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation
Wenzel, H. J., Hunsaker, M. R., Greco, C., Willemsen, R., & Berman, R. F. (2010) · Brain Research · doi:10.1016/j.brainres.2009.12.077 · Cited by 67 · see citing works
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Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model
Entezam, A., Lokanga, R. A., Le, W. W., Hoffman, G. E., & Usdin, K. (2010) · Human Mutation · doi:10.1002/humu.21237 · Cited by 64 · see citing works
No evidence for disruption of normal patterns of mRNA localization in dendrites or dendritic transport of recently synthesized mRNA in FMR1 knockout mice, a model for human fragile-X mental retardation syndrome
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Screen for expanded FMR1 alleles in patients with essential tremor
Garcia-Arocena, D., Louis, E. D., Tassone, F., Gilliam, T. C., Ottman, R., Jacquemont, S., & Hagerman, P. J. (2004) · Movement Disorders · doi:10.1002/mds.20043 · Cited by 59 · see citing works
Evidence for RNA-Mediated Toxicity in the Fragile X-Associated Tremor/Ataxia Syndrome
Galloway, J. N., & Nelson, D. L. (2009) · Future Neurology · doi:10.2217/fnl.09.44 · Cited by 55 · see citing works
Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation
Hunsaker, M. R., Goodrich‐Hunsaker, N. J., Willemsen, R., & Berman, R. F. (2010) · Behavioural Brain Research · doi:10.1016/j.bbr.2010.05.010 · Cited by 53 · see citing works
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ATR protects the genome against CGG{middle dot}CCG-repeat expansion in Fragile X premutation mice
Entezam, A., & Usdin, K. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm1136 · Cited by 53 · see citing works
Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles
Tassone, F., Rubeis, S. D., Carosi, C., Fata, G. L., Serpa, G., Raske, C., Willemsen, R., Hagerman, P. J., & Bagni, C. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr100 · Cited by 48 · see citing works
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Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells
Schrier, M., Severijnen, L., Reis, S. A., Rife, M. F., VANTPADJE, S., VANCAPPELLEN, G., Oostra, B. A., & Willemsen, R. (2004) · Experimental Neurology · doi:10.1016/j.expneurol.2004.05.039 · Cited by 34 · see citing works
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ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice
Entezam, A., & Usdin, K. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp666 · Cited by 34 · see citing works
Fragile X syndrome: from gene discovery to therapy
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Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons
Levenga, J., Buijsen, R. A. M., Rife, M. F., Moine, H., Nelson, D. L., Oostra, B. A., Willemsen, R., & de Vrij, F. M. S. (2009) · Neurobiology of Disease · doi:10.1016/j.nbd.2009.05.004 · Cited by 29 · see citing works
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Long‐term potentiation in the hippocampus of fragile X knockout mice
Godfraind, J., Reyniers, E., Boulle, K. D., D’Hooge, R., Deyn, P. P. D., Bakker, C. E., Oostra, B. A., Kooy, R. F., & Willems, P. J. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960809)64:2 · Cited by 16 · see citing works
Reactivation of silenced genes and transcriptional therapy
Chiurazzi, P., & Neri, G. (2003) · Cytogenetic and Genome Research · doi:10.1159/000072838 · Cited by 14 · see citing works
FXTAS: Neuropsychological/Neuropsychiatric Phenotypes
Grigsby, J., Brega, A. G., Seritan, A. L., & Bourgeois, J. A. (2010) · Springer eBooks · doi:10.1007/978-1-4419-5805-1_3 · Cited by 3 · see citing works
Untitled work
Miller (1999) · doi:10.1002/(sici)1096-8628(19990402)83:4
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Irwin (2001) · doi:10.1002/1096-8628(20010115)98:2

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Fragile X syndrome
Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.65 · Cited by 838 · see citing works
The Disease-associated r(GGGGCC) Repeat from the C9orf72 Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures
Reddy, K., Zamiri, B., Stanley, S. Y., Macgregor, R. B., & Pearson, C. E. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.c113.452532 · Cited by 314 · see citing works
Dendritic spines: Revisiting the physiological role
Chidambaram, S. B., Rathipriya, A. G., Bolla, S. R., Bhat, A., Ray, B., Mahalakshmi, A. M., Manivasagam, T., Thenmozhi, A. J., Essa, M. M., Guillemin, G. J., et al. (2019) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2019.01.005 · Cited by 255 · see citing works
Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X genePreprint
Loomis, E. W., Eid, J. S., Peluso, P. S., Yin, J., Hickey, L., Rank, D. R., McCalmon, S. A., Hagerman, R. J., Tassone, F., & Hagerman, P. J. (2012) · Genome Research · doi:10.1101/gr.141705.112 · Cited by 203 · see citing works
The role of long non-coding RNAs in neurodevelopment, brain function and neurological disease
Roberts, T. C., Morris, K. V., & Wood, M. J. A. (2014) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2013.0507 · Cited by 204 · see citing works
Dendritic spine dysgenesis in autism related disorders
Phillips, M. L., & Pozzo‐Miller, L. D. (2015) · Neuroscience Letters · doi:10.1016/j.neulet.2015.01.011 · Cited by 176 · see citing works
A Wide Extent of Inter-Strain Diversity in Virulent and Vaccine Strains of Alphaherpesviruses
SZPARA, M. L., Tafuri, Y. R., Parsons, L. R., Shamim, S. R., Verstrepen, K. J., Legendre, M., & Enquist, L. W. (2011) · PLoS Pathogens · doi:10.1371/journal.ppat.1002282 · Cited by 157 · see citing works
Primary ovarian insufficiency: an update
LIU, J. H., & Cox, L. (2014) · International Journal of Women s Health · doi:10.2147/ijwh.s37636 · Cited by 156 · see citing works
Species-dependent posttranscriptional regulation of NOS1 by FMRP in the developing cerebral cortex
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Current Concepts in Premature Ovarian Insufficiency
Maclaran, K., & Panay, N. (2015) · Women s Health · doi:10.2217/whe.14.82 · Cited by 134 · see citing works
Analysis of somatic microsatellite indels identifies driver events in human tumors
Maruvka, Y. E., Mouw, K. W., Karlić, R., Parasuraman, P., Kamburov, A., Polak, P. P., Haradhvala, N. J., Hess, J. M., Rheinbay, E., Brody, Y., et al. (2017) · Nature Biotechnology · doi:10.1038/nbt.3966 · Cited by 124 · see citing works
Molecular regulation of dendritic spine dynamics and their potential impact on synaptic plasticity and neurological diseases
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Structural variation in 1,019 diverse humans based on long-read sequencing
Schloissnig, S., Pani, S., Ebler, J., Hain, C., Tsapalou, V., Söylev, A., Hüther, P., Ashraf, H., Prodanov, T., Asparuhova, M., et al. (2025) · Nature · doi:10.1038/s41586-025-09290-7 · Cited by 134 · see citing works
Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back
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Mutant Huntingtin stalls ribosomes and represses protein synthesis in a cellular model of Huntington disease
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The DNA Replication Program Is Altered at the FMR1 Locus in Fragile X Embryonic Stem Cells
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Identification of rare de novo epigenetic variations in congenital disorders
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Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice
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Alterations in CA1 hippocampal synapses in a mouse model of fragile X syndrome
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Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency
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Fragile X Syndrome: The FMR1 CGG Repeat Distribution Among World Populations
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Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS
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Dysfunctional Autism Risk Genes Cause Circuit-Specific Connectivity Deficits With Distinct Developmental Trajectories
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A Comparison of the Whole Genome Approach of MeDIP-Seq to the Targeted Approach of the Infinium HumanMethylation450 BeadChip® for Methylome Profiling
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Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency
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EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders
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FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome
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Mechanism-Based Treatments in Neurodevelopmental Disorders: Fragile X Syndrome
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CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat
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The 3' UTR of FMR1 mRNA is a target of miR-101, miR-129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse
Zongaro, S., Hukema, R. K., D’Antoni, S., Davidovic, L., Barbry, P., Catania, M. V., Willemsen, R., Mari, B. P., & Bardoni, B. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt044 · Cited by 77 · see citing works
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Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome
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Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock‐in mouse model of the fragile X premutation
Berman, R. F., Murray, K. D., Arqué, G., Hunsaker, M. R., & Wenzel, H. J. (2012) · Epilepsia · doi:10.1111/j.1528-1167.2012.03486.x · Cited by 64 · see citing works
Fragile X syndrome and fragile X-associated tremor ataxia syndrome
Hall, D. A., & Berry‐Kravis, E. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63233-3.00025-7 · Cited by 63 · see citing works
Fragile X Screening by Quantification of FMRP in Dried Blood Spots by a Luminex Immunoassay
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Repeat-associated non-AUG (RAN) translation: insights from pathology
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Induced expression of expanded CGG RNA causes mitochondrial dysfunctionin vivo
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Neurobehavioural evidence for the involvement of the FMR1 gene in female carriers of fragile X syndrome
Kraan, C. M., Hocking, D. R., Bradshaw, J. L., Fielding, J., Cohen, J., Georgiou‐Karistianis, N., & Cornish, K. M. (2013) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2013.01.010 · Cited by 53 · see citing works
DUF1220 Dosage Is Linearly Associated with Increasing Severity of the Three Primary Symptoms of Autism
Davis, J. M., Searles, V. B., Anderson, N., Keeney, J., Dumas, L., & Sikela, J. M. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004241 · Cited by 51 · see citing works
DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome
Nobile, V., Pucci, C., Chiurazzi, P., Neri, G., & Tabolacci, E. (2021) · Biomolecules · doi:10.3390/biom11020296 · Cited by 50 · see citing works
Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation
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Authors: Willemsen, R., Levenga, J., & Oostra, B.
Affiliations: Erasmus MC (NL)
ORCID: Willemsen, R
Levenga, J
Venue: Clinical Genetics
Publisher: Wiley
Published: 2011-06-30
Volume: 80
Issue: 3
Pages: 214-225
ISSN: 0009-9163 (ISSN-L)
DOI: 10.1111/j.1399-0004.2011.01723.x
PMC: PMC3151325
OpenAlex: W2122400358
Cited by: 184
References: 114
Citations by year: 2026: 8 · 2025: 11 · 2024: 12 · 2023: 12 · 2022: 7 · 2021: 9 · 2020: 4 · 2019: 12 · 2018: 12 · 2017: 8 · 2016: 16 · 2015: 11 · 2014: 22 · 2013: 20 · 2012: 17
FWCI: 2.08
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: doi.wiley.com/10.1002/tdm_license_1 (tdm, 1524 d)
Locations: Clinical Genetics (publishedVersion)
PubMed (publishedVersion)
EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
Funders: ZonMw (113301069)
National Institute of Neurological Disorders and Stroke (RL1NS062411)
National Institute of Dental and Craniofacial Research (UL1DE019583)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01 HD38038, R01HD038038)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: FMR1 gene, CGG repeat, fragile X syndrome, fragile X premutation, fragile X-associated tremor/ataxia syndrome, repeat length, repeat instability, DNA methylation, FMRP, neurodegeneration, pathophysiological mechanisms
MeSH terms: Aged, Animals, Ataxia, Brain, Disease Models, Animal, Female, Fragile X Syndrome, Genotype, Humans, Neurons, Phenotype, Gene Expression, Primary Ovarian Insufficiency, Mice, Knockout, Trinucleotide Repeats, DNA Methylation, 5' Untranslated Regions, Mice, Fragile X Messenger Ribonucleoprotein 1, Prescription Drugs, Genetic Association Studies

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CGG repeat in the FMR1 gene: size matters

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