Characterization of the full fragile X syndrome mutation in fetal gametes
Abstract
Fragile X syndrome results from the expansion of the CGG repeat in the FMR1 gene. Expansion has been suggested to be a postzygotic event with the germline protected. From an analysis of intact ovaries of full mutation fetuses, we now show that only full expansion alleles can be detected in oocytes (but in the unmethylated state). Similarly, the testes of a 13-week full mutation fetus show no evidence of premutations while a 17-week full mutation fetus exhibits some germ cells with attributes of premutations. These data discount the hypothesis that the germline is protected from full expansion and suggest full mutation contraction in the immature testis. Thus, full expansion may already exist in the maternal oocyte, or postzygotic expansion, if it occurs, arises quite early in development prior to germline segregation.
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In full mutation alleles, this boundary is missing and cytosines upstream of the CGG repeat become methylated around the thirteenth week of embryonic development.
“This boundary is missing in FM alleles, and the cytosines upstream of the CGG repeat become methylated around the thirteenth week of embryonic development (16).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [16]
Cites
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-citationFu, 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., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080 · see citing works
Self-citationCAG 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
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-citationAndrew, 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
Monk, M., Boubelı́k, M., & Lehnert, S. A. (1987) · Development · doi:10.1242/dev.99.3.371 · Cited by 1,100 · see citing works
A quantitative and cytological study of germ cells in human ovaries
Baker, T. G. (1963) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.1963.0055 · Cited by 1,094 · see citing works
Fmr1 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
Devys, D., Lutz, Y., Rouyer, N., Bellocq, J., & Mandel, J. (1993) · Nature Genetics · doi:10.1038/ng0893-335 · Cited by 781 · see citing works
DNA methylation represses <i>FMR-1</i> transcription in fragile X syndrome
Sutcliffe, J. S., Nelson, D. L., Zhang, F., Pieretti, M., Caskey, C. T., Saxe, D., & Warren, S. T. (1992) · Human Molecular Genetics · doi:10.1093/hmg/1.6.397 · Cited by 680 · see citing works
Self-citationDirect Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
Rousseau, F., Heitz, D., Biancalana, V., Blumenfeld, S., Kretz, C., Boué, J., Tommerup, N., Hagen, C. V. D., DeLozier-Blanchet, C. D., Croquette, M., et al. (1991) · New England Journal of Medicine · doi:10.1056/nejm199112123252401 · Cited by 643 · 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
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
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
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-citationDNA methylation in early development
Razin, A., & Shemer, R. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.suppl_1.1751 · Cited by 280 · see citing works
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
Brown, W. T. (1993) · JAMA · doi:10.1001/jama.1993.03510130075034 · Cited by 262 · see citing works
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.
Snow, K., Doud, L. K., Hagerman, R. J., Pergolizzi, R. G., Erster, S. H., & Thibodeau, S. N. (1993) · PubMed · Cited by 226 · see citing works
Advances in Molecular Analysis of Fragile X Syndrome
Warren, S. T. (1994) · JAMA · doi:10.1001/jama.1994.03510310066040 · Cited by 202 · see citing works
Self-citationGametic but not somatic instability of CAG repeat length in Huntington's disease.
MacDonald, M. E., Barnes, G., Srinidhi, J., Duyao, M. P., Ambrose, C. M., Myers, R. H., Jackson, J. G., Conneally, P. M., Young, A. B., & Penney, J. B. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.12.982 · Cited by 195 · see citing works
Laird, C. D. (1987) · Genetics · doi:10.1093/genetics/117.3.587 · Cited by 188 · see citing works
Wöhrle, D., Hennig, I., Vogel, W., & Steinbach, P. (1993) · Nature Genetics · doi:10.1038/ng0693-140 · Cited by 174 · see citing works
Driscoll, D. J., & Migeon, B. R. (1990) · Somatic Cell and Molecular Genetics · doi:10.1007/bf01233363 · Cited by 159 · see citing works
Devys, D., Biancalana, V., Rousseau, F., Boué, J., Mandel, J., & Oberlé, I. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320430134 · Cited by 157 · see citing works
On the parental origin of de novo mutation in man.
Chandley, A. C. (1991) · Journal of Medical Genetics · doi:10.1136/jmg.28.4.217 · Cited by 120 · see citing works
Rousseau, F., Heitz, D., Oberlé, I., & Mandel, J. (1991) · Journal of Medical Genetics · doi:10.1136/jmg.28.12.830 · Cited by 110 · see citing works
A Quantitative Study of Primordial Germ Cells in the Male Rat
Beaumont, H. M., & Mandl, A. M. (1963) · Development · doi:10.1242/dev.11.4.715 · Cited by 108 · see citing works
Bächner, D., Manca, A., Stelnbach, P., Wöhrle, D., Just, W., Vogel, W., Hameister, H., & Poustka, A. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.12.2043 · Cited by 108 · see citing works
Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus.
Morton, N. E., & MacPherson, J. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.9.4215 · Cited by 98 · see citing works
Characterization of FMR1 proteins isolated from different tissues
Verhelj, C., de Graaff, E., Bakker, C. E., Willemsen, R., Willems, P. J., Meijer, N., GALJAARD, H., Reuser, A. J. J., Oostra, B. A., & Hoogeveen, A. T. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.5.895 · Cited by 85 · see citing works
Self-citationTriplet repeat expansion mutations: the example of fragile X syndrome.
Warren, S. T., & Ashley, C. T. (1995) · Annual Review of Neuroscience · doi:10.1146/annurev.ne.18.030195.000453 · Cited by 74 · see citing works
Self-citationRousseau, F., Robb, L. J., Rouillard, P., & Kaloustian, V. M. D. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.6.927 · Cited by 74 · see citing works
The fragile X premutation in carriers and its effect on mutation size in offspring.
Fisch, G. S., Snow, K., Thibodeau, S. N., Chalifaux, M., Holden, J. J. A., Nelson, D. L., Howard‐Peebles, P. N., & Maddalena, A. (1995) · Europe PMC (PubMed Central) · Cited by 69 · see citing works
Genotype mosaicism in fragile X fetal tissues
W�hrle, D., Hirst, M. C., Kennerknecht, I., Davies, K., & Steinbach, P. J. (1992) · Human Genetics · doi:10.1007/bf00207057 · Cited by 64 · see citing works
Trinucleotide repeat instability: when and where?
Nelson, D. L., & Warren, S. T. (1993) · Nature Genetics · doi:10.1038/ng0693-107 · Cited by 56 · see citing works
Self-citationde Graaff, E., Willemsen, R., Zhong, N. A., de Die-Smulders, C. E. M., Brown, W. T., Freling, G., & Oostra, B. A. (1995) · PubMed Central · Cited by 50 · see citing works
Self-citationEnhanced Fmr–1 expression in testis
Bächner, D., Steinbach, P. J., Wöhrle, D., Just, W., Vogel, W., Hameister, H., Manca, A., & Poustka, A. (1993) · Nature Genetics · doi:10.1038/ng0693-115 · Cited by 38 · see citing works
Luo, S., Robinson, J. C., Reiss, A. L., & Migeon, B. R. (1993) · Somatic Cell and Molecular Genetics · doi:10.1007/bf01232750 · Cited by 37 · see citing works
Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome.
Ashley‐Koch, A. E., & Sherman, S. L. (1995) · PubMed Central · Cited by 36 · see citing works
Programmed demethylation in CpG islands during human fetal development
Migeon, B. R., Holland, M. M., Driscoll, D. J., & Robinson, J. C. (1991) · Somatic Cell and Molecular Genetics · doi:10.1007/bf01232973 · Cited by 26 · see citing works
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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
Repeat instability: mechanisms of dynamic mutations
Pearson, C. E., Edamura, K. N., & Cleary, J. D. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1689 · Cited by 924 · 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
Comparative 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
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
Garber, 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-citationThe 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-citationUnderstanding 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
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-citationFragile 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
Vries, B. B. A. D., Halley, D. J. J., Oostra, B. A., & Niermeijer, M. F. (1998) · Journal of Medical Genetics · doi:10.1136/jmg.35.7.579 · Cited by 260 · see citing works
Self-citationDisease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries
Sun, J. H., Zhou, L., Emerson, D. J., Phyo, S. A., Titus, K. R., Gong, W., Gilgenast, T. G., Beagan, J. A., Davidson, B. L., Tassone, F., et al. (2018) · Cell · doi:10.1016/j.cell.2018.08.005 · Cited by 249 · see citing works
“We reasoned that boundaries might be disrupted in unstable repeat expansion disorders given that: (1) daSTRs are hypermethylated in fragile X syndrome (FXS) and myotonic dystrophy (Burman et al., 1999; Malter et al., 1997; Wöhrle et al., 1998, 2001) and (2) DNA methylation disrupts occupancy of the key architectural p…”
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Pâques, F., Leung, W.-Y., & Haber, J. E. (1998) · Molecular and Cellular Biology · doi:10.1128/mcb.18.4.2045 · Cited by 226 · see citing works
DNA secondary structure: A common and causative factor for expansion in human disease
McMurray, C. T. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.5.1823 · Cited by 219 · see citing works
The Unstable Repeats—Three Evolving Faces of Neurological Disease
Nelson, D. L., Orr, H. T., & Warren, S. T. (2013) · Neuron · doi:10.1016/j.neuron.2013.02.022 · Cited by 200 · see citing works
Self-citationCTG repeat instability and size variation timing in DNA repair‐deficient mice
Savouret, C., Brisson, E., Essers, J., Kanaar, R., Pastink, A., Riele, H. T., Junien, C., & Gourdon, G. (2003) · EMBO Journal · doi:10.1093/emboj/cdg202 · Cited by 215 · see citing works
Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis
Tamanini, F. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.8.1315 · Cited by 198 · see citing works
Immunocytochemical and Biochemical Characterization of FMRP, FXR1P, and FXR2P in the Mouse
Bakker, C. E., de Diego‐Otero, Y., Bontekoe, C. J. M., Raghoe, P., Luteijn, T., Hoogeveen, A. T., Oostra, B. A., & Willemsen, R. (2000) · Experimental Cell Research · doi:10.1006/excr.2000.4932 · Cited by 193 · see citing works
Self-citationReduced FMR1 mRNA translation efficiency in Fragile X patients with premutations
Primerano, B., Tassone, F., Hagerman, R. J., Hagerman, P. J., Amaldi, F., & Bagni, C. (2002) · RNA · doi:10.1017/s1355838202020642 · Cited by 182 · see citing works
Sutherland, G. R., Baker, E., & Richards, R. I. (1998) · Trends in Genetics · doi:10.1016/s0168-9525(98)01628-x · Cited by 174 · see citing works
Gacy, A. M., Goellner, G. M., Spiro, C., Chen, X., Gupta, G., Bradbury, E. M., Dyer, R. B., Mikesell, M. J., Yao, J. Z., Johnson, A. J., et al. (1998) · Molecular Cell · doi:10.1016/s1097-2765(00)80058-1 · Cited by 170 · see citing works
Alpatov, R., Lesch, B. J., Nakamoto-Kinoshita, M., Blanco, M. A., Chen, S., Stützer, A., Armache, K., Simon, M. D., Xu, C., Ali, M., et al. (2014) · Cell · doi:10.1016/j.cell.2014.03.040 · Cited by 163 · see citing works
Self-citationLaboratory Guidelines for Huntington Disease Genetic Testing
NANCE, M. A., Seltzer, W. K., Ashizawa, T., Bennett, R. L., McIntosh, N. M., Myers, R. H., Potter, N. T., & Shea, D. K. (1998) · The American Journal of Human Genetics · doi:10.1086/301846 · Cited by 165 · see citing works
McConkie‐Rosell, A., Finucane, B. M., Cronister, A., Abrams, L. J., Bennett, R. L., & Pettersen, B. J. (2005) · Journal of Genetic Counseling · doi:10.1007/s10508-005-0002-3 · Cited by 161 · see citing works
Oostra, B. A., & Willemsen, R. (2009) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2009.02.007 · Cited by 161 · see citing works
Self-citationInstability of a (CGG)98 repeat in the Fmr1 promoter
Bontekoe, C. J. M. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.16.1693 · Cited by 143 · see citing works
Cleary, J. D., & Pearson, C. E. (2003) · Cytogenetic and Genome Research · doi:10.1159/000072837 · Cited by 138 · see citing works
Microsatellite repeat instability and neurological disease
Brouwer, J. R., Willemsen, R., & Oostra, B. A. (2009) · BioEssays · doi:10.1002/bies.080122 · Cited by 137 · see citing works
Self-citationUnderstanding what determines the frequency and pattern of human germline mutations
Arnheim, N., & Calabrese, P. P. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2529 · Cited by 137 · see citing works
Of mice and the fragile X syndrome
Kooy, R. F. (2003) · Trends in Genetics · doi:10.1016/s0168-9525(03)00017-9 · Cited by 134 · see citing works
Brouwer, J. R., Mientjes, E., Bakker, C. E., Nieuwenhuizen, I. M., Severijnen, L.-A. W. F. M., van der Linde, H. C., Nelson, D. L., Oostra, B. A., & Willemsen, R. (2006) · Experimental Cell Research · doi:10.1016/j.yexcr.2006.10.002 · Cited by 133 · see citing works
Self-citationEpigenetic Variation Illustrated by DNA Methylation Patterns of the Fragile-X Gene FMR1
Stöger, R. J., Kajimura, T., Brown, W. T., & Laird, C. D. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.11.1791 · Cited by 131 · see citing works
Hundscheid, R. D. L., Sistermans, E. A., Thomas, C. M. G., Braat, D. D. M., Straatman, H., Kiemeney, L. A. L. M., Oostra, B. A., & Smits, A. P. T. (2000) · The American Journal of Human Genetics · doi:10.1086/302774 · Cited by 130 · see citing works
Self-citationWöhrle, D., Salat, U., Hameister, H., Vogel, W., & Steinbach, P. J. (2001) · The American Journal of Human Genetics · doi:10.1086/322739 · Cited by 123 · see citing works
Saldarriaga, W., Tassone, F., González-Teshima, L. Y., Forero-Forero, J. V., Ayala‐Zapata, S., & Hagerman, R. J. (2014) · Colombia medica · doi:10.25100/cm.v45i4.1810 · Cited by 122 · see citing works
Pietrobono, R. (2002) · Nucleic Acids Research · doi:10.1093/nar/gkf434 · Cited by 118 · see citing works
Steinbach, P., Gläser, D., Vogel, W., Wolf, M., & Schwemmle, S. (1998) · The American Journal of Human Genetics · doi:10.1086/301711 · Cited by 116 · see citing works
Genetics of human prefrontal function
Winterer, G., & Goldman, D. A. (2003) · Brain Research Reviews · doi:10.1016/s0165-0173(03)00205-4 · Cited by 115 · see citing works
Instability and chromatin structure of expanded trinucleotide repeats
Dion, V., & Wilson, J. H. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.04.007 · Cited by 113 · 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
Self-citationClinical and molecular implications of mosaicism in FMR1 full mutations
Pretto, D. I., Yrigollen, C. M., Tang, H.-T., Williamson, J., Espinal, G. M., Iwahashi, C. K., Durbin-Johnson, B. P., Hagerman, R. J., Hagerman, P. J., & Tassone, F. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00318 · Cited by 111 · see citing works
Meiotic instability of CAG repeat tracts occurs by double-strand break repair in yeast
Jankowski, C., Nasar, F., & Nag, D. K. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.040460297 · Cited by 110 · see citing works
Saldarriaga, W., Tassone, F., González-Teshima, L. Y., Forero-Forero, J. V., Ayala‐Zapata, S., & Hagerman, R. J. (2014) · PubMed Central · Cited by 109 · see citing works
Slegtenhorst-Eegdeman, K. E., de Rooij, D. G., Verhoef‐Post, M., van de Kant, H. J. G., Bakker, C. E., Oostra, B. A., Grootegoed, J. A., & Themmen, A. P. N. (1998) · Endocrinology · doi:10.1210/endo.139.1.5706 · Cited by 106 · see citing works
Self-citationBarbé, L., Lanni, S., López, A., Franck, S., Spits, C., Keymolen, K., Seneca, S., Tomé, S., Miron, I. M., Letourneau, J., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.01.033 · Cited by 101 · see citing works
Leeflang, E. P. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.2.173 · Cited by 102 · see citing works
Wöhrle, D., Salat, U., Gläser, D., Mücke, J., Meisel-Stosiek, M., Schindler, D., Vogel, W., & Steinbach, P. J. (1998) · Journal of Medical Genetics · doi:10.1136/jmg.35.2.103 · Cited by 100 · see citing works
Lenzmeier, B. A., & Freudenreich, C. H. (2003) · Cytogenetic and Genome Research · doi:10.1159/000072836 · Cited by 97 · see citing works
Pop, A. S., Gomez‐Mancilla, B., Neri, G., Willemsen, R., & Gasparini, F. (2013) · Psychopharmacology · doi:10.1007/s00213-013-3330-3 · Cited by 94 · see citing works
Self-citationFragile X Syndrome: The FMR1 CGG Repeat Distribution Among World Populations
Peprah, E. K. (2011) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2011.00694.x · Cited by 96 · see citing works
White, P. J., Borts, R. H., & Hirst, M. C. (1999) · Molecular and Cellular Biology · doi:10.1128/mcb.19.8.5675 · Cited by 95 · see citing works
Hansen, R. S., Canfield, T. K., Fjeld, A. D., Mumm, S. R., Laird, C. D., & Gartler, S. M. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.9.4587 · Cited by 94 · 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
Self-citationBalakumaran, B. S. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.1.93 · Cited by 85 · see citing works
CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles
Pretto, D. I., Mendoza‐Morales, G., Lo, J., Cao, R., Hadd, A. G., Latham, G. J., Durbin-Johnson, B. P., Hagerman, R. J., & Tassone, F. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-102021 · Cited by 84 · see citing works
Genome-wide demethylation destabilizes CTG·CAG trinucleotide repeats in mammalian cells
Gorbunova, V. A., Seluanov, A., Mittelman, D., & Wilson, J. H. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh317 · Cited by 84 · see citing works
Lokanga, R. A., Zhao, X.-N., & Usdin, K. (2013) · Human Mutation · doi:10.1002/humu.22464 · Cited by 81 · see citing works
Somatic and Germline Instability of the ATTCT Repeat in Spinocerebellar Ataxia Type 10
Matsuura, T., Fang, P., Lin, X., Khajavi, M., Tsuji, K., Rasmussen, A., Grewal, R. P., Achari, M., Alonso, M. E., Pulst, S. M., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/421526 · Cited by 79 · see citing works
Slipping while sleeping? Trinucleotide repeat expansions in germ cells
Pearson, C. E. (2003) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2003.09.006 · Cited by 79 · see citing works
Fragile X syndrome at the turn of the century
Kooy, R. F., Willemsen, R., & Oostra, B. A. (2000) · Molecular Medicine Today · doi:10.1016/s1357-4310(00)01674-9 · Cited by 79 · see citing works
Self-citationMolecular genetics of congenital myotonic dystrophy
Lanni, S., & Pearson, C. E. (2019) · Neurobiology of Disease · doi:10.1016/j.nbd.2019.104533 · Cited by 78 · see citing works
Swillen, A., Vogels, A., Devriendt, K., & Fryns, J. P. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(200022)97:2 · Cited by 188 · see citing works
The Drosophila fragile X-related gene regulates axoneme differentiation during spermatogenesis
Zhang, Y., Matthies, H. J. G., Mancuso, J. J., Andrews, H. K., Woodruff, E. A., Friedman, D., & Broadie, K. S. (2004) · Developmental Biology · doi:10.1016/j.ydbio.2004.02.010 · Cited by 76 · see citing works
Man, L., Lekovich, J. P., Rosenwaks, Z., & Gerhardt, J. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00290 · Cited by 71 · see citing works
Nolin, S. L., Glicksman, A., Tortora, N. D., Allen, E. G., Macpherson, J., Milà, M., Vianna‐Morgante, A. M., Sherman, S. L., Dobkin, C., Latham, G. J., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61165 · Cited by 73 · see citing works
Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic
Moutou, C. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.7.971 · Cited by 70 · see citing works
Kovtun, I. V. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.18.2767 · Cited by 69 · see citing works
Molecular Genetics and Genetic Testing in Myotonic Dystrophy Type 1
Pavicevic, D. S., Miladinović, J., Brkušanin, M., Šviković, S., Djurica, S., Brajušković, G. N., & Romac, S. P. (2013) · BioMed Research International · doi:10.1155/2013/391821 · Cited by 68 · see citing works
Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down.
Gomes-Pereira, M., & Monckton, D. (2006) · Mutation research · doi:10.1016/j.mrfmmm.2006.01.011 · Cited by 72 · see citing works
Sermon, K., Seneca, S., Vanderfaeillie, A., Lissens, W., Joris, H., Vandervorst, M., Steirteghem, A. V., & Liebaers, I. (1999) · Prenatal Diagnosis · doi:10.1002/(sici)1097-0223(199912)19:13 · Cited by 66 · see citing works
Public Health Literature Review of Fragile X Syndrome
Raspa, M., Wheeler, A., & Riley, C. M. (2017) · PEDIATRICS · doi:10.1542/peds.2016-1159c · Cited by 61 · see citing works
CpG Methylation Modifies the Genetic Stability of Cloned Repeat SequencesPreprint
Nichol, K., & Pearson, A. C. E. (2002) · Genome Research · doi:10.1101/gr.74502 · Cited by 62 · see citing works
Kovtun, I. V., Thornhill, A. R., & McMurray, C. T. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh325 · Cited by 61 · see citing works
Lavedan, C. N., Grabczyk, E., Usdin, K., & Nussbaum, R. L. (1998) · Genomics · doi:10.1006/geno.1998.5299 · Cited by 60 · see citing works
Targeted Reactivation of FMR1 Transcription in Fragile X Syndrome Embryonic Stem Cells
Haenfler, J. M., Skariah, G., Rodriguez, C. M., da Rocha, A. M., Parent, J. M., Smith, G. D., & Todd, P. K. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00282 · Cited by 57 · see citing works
Hirst, M. C., & White, P. J. (1998) · Nucleic Acids Research · doi:10.1093/nar/26.10.2353 · Cited by 56 · see citing works
Neri, G., & Chiurazzi, P. (1999) · Advances in genetics · doi:10.1016/s0065-2660(08)60151-0 · Cited by 56 · 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
FMR1 premutation allele (CGG)81 is stable in mice.
Bontekoe, C. J. M., de Graaff, E., Im, N., Willemsen, R., & Oostra, B. A. (1997) · PubMed · Cited by 55 · see citing works
Self-citationThe role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective
Latham, G. J., Coppinger, J., Hadd, A. G., & Nolin, S. L. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00244 · Cited by 54 · see citing works
Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction
Syrrou, M., Georgiou, I. A., Patsalis, P. C., Bouba, I., Adonakis, G., & Pagoulatos, G. N. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990528)84:3 · Cited by 33 · see citing works
The fragile X gene and its function
Oostra, B. A., & Chiurazzi, P. (2001) · Clinical Genetics · doi:10.1034/j.1399-0004.2001.600601.x · Cited by 52 · see citing works
Self-citationExamination of Factors Associated with Instability of the FMR1 CGG Repeat
Ashley‐Koch, A. E., Robinson, H. M., Glicksman, A., Nolin, S. L., Schwartz, C. E., Brown, W. T., TURNER, G. M., & Sherman, S. L. (1998) · The American Journal of Human Genetics · doi:10.1086/302018 · Cited by 52 · see citing works
Role of Replication and CpG Methylation in Fragile X Syndrome CGG Deletions in Primate Cells
Edamura, K. N., Leonard, M. R., & Pearson, C. E. (2005) · The American Journal of Human Genetics · doi:10.1086/427928 · Cited by 52 · see citing works
The Testes: Disorders of Sexual Differentiation and Puberty in the Male
Hughes, I. A. (2008) · Elsevier eBooks · doi:10.1016/b978-141604090-3.50021-1 · Cited by 50 · see citing works
Gray, S. J., Gerhardt, J., Doerfler, W., Small, L. E., & Fanning, E. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.01382-06 · Cited by 49 · see citing works
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 · see citing works
Self-citationAn 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 49 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 43 · see citing works
Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers
Arnheim, N., & Calabrese, P. P. (2016) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083115-022656 · Cited by 44 · see citing works
Weisman-Shomer, P. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.7.1535 · Cited by 43 · see citing works
Fragile Sites—Cytogenetic Similarity with Molecular Diversity
Sutherland, G. R., & Richards, R. I. (1999) · The American Journal of Human Genetics · doi:10.1086/302267 · Cited by 42 · see citing works
Fragile X Premutations Are Not a Major Cause of Early Menopause
Kenneson, A., Cramer, D. W., & Warren, S. T. (1997) · The American Journal of Human Genetics · doi:10.1086/301647 · Cited by 40 · see citing works
Self-citationFragile sites, chromosomal lesions, tandem repeats, and disease
Mirceta, M., Shum, N., Schmidt, M. H. M., & Pearson, C. E. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.985975 · Cited by 30 · see citing works
- Authors
- Malter, H. E., Iber, J. C., Willemsen, R., Graaff, E. D., Tarleton, J. C., Leisti, J., Warren, S. T., & Oostra, B. A.
- Affiliations
- Howard Hughes Medical Institute (US)
- Erasmus University Rotterdam (NL)
- Greenwood Genetic Center (US)
- University of Oulu (FI)
- Corresponding author
- Warren, Stephen T.
- Venue
- Nature Genetics
- Published
- 1997-02
- Volume
- 15
- Issue
- 2
- Pages
- 165-169
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2094847130
- Cited by
- 197
- References
- 41
- Citations by year
- 2026: 1 · 2023: 1 · 2022: 3 · 2021: 3 · 2019: 3 · 2018: 5 · 2017: 7 · 2016: 3 · 2015: 2 · 2014: 10 · 2013: 6 · 2012: 3
- FWCI
- 12.61
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R37 HD20521, R37HD020521)
- 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 › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- fragile X syndrome, FMR1 gene, CGG repeat expansion, full mutation, premutation, germline, oocytes, testis, fetal development, DNA methylation, repeat contraction
- MeSH terms
- DNA Mutational Analysis, Female, Fetal Diseases, Fetal Proteins, Fragile X Syndrome, Gestational Age, Humans, Male, Models, Genetic, Nerve Tissue Proteins, Oocytes, Ovary, Spermatozoa, Testis, X Chromosome, RNA-Binding Proteins, Genomic Imprinting, Trinucleotide Repeats, DNA Methylation, Fragile X Messenger Ribonucleoprotein 1, Fragile X Mental Retardation Protein
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