Cited by 122Genetic Neurodegenerative DiseasesGenetic factors in colorectal cancerGenetics and Neurodevelopmental Disorders

The DOI matches its Crossref record; 46 of the 46 references it cites were found in a registry or an index.

Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands

Brock, G.·1999·Human Molecular Genetics

DOI 10.1093/hmg/8.6.1061

Open this paper in CoChat — free account

Abstract

An increasing number of human genetic disorders are associated with the expansion of trinucleotide repeats. The majority of these diseases are associated with CAG/CTG expansions, including Huntington's disease, myotonic dystrophy and many of the spinocerebellar ataxias. Recently, two new expanded CAG/CTG repeats have been identified that are not associated with a phenotype. Expanded alleles at all of these loci are unstable, with frequent length changes during intergenerational transmission. However, variation in the relative levels of instability, and the size and direction of the length change mutations observed, between the CAG/CTG loci is apparent. We have quantified these differences, taking into account effects of progenitor allele length, by calculating the relative expandability of each repeat. Since the repeat motifs are the same, these differences must be a result of flanking sequence modifiers. We present data that indicate a strong correlation between the relative expandability of these repeats and the flanking GC content. Moreover, we demonstrate that the most expandable loci are all located within CpG islands. These data provide the first insights into the molecular bases of cis -acting flanking sequences modifying the relative mutability of dispersed expanded human triplet repeats.

Integrity signals

Registry

Crossref · 10.1093/hmg/8.6.1061

Cites

46 of 46 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Basic local alignment search tool
Altschul, S. F., Gish, W., Miller, W., Myers, E. W., & Lipman, D. J. (1990) · Journal of Molecular Biology · doi:10.1006/jmbi.1990.9999 · Cited by 98,669
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366
CpG Islands in vertebrate genomes
Gardiner‐Garden, M., & Frommer, M. (1987) · Journal of Molecular Biology · doi:10.1016/0022-2836(87)90689-9 · Cited by 3,417
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
Spada, A. L., Wilson, E. M., Lubahn, D. B., Harding, A., & Fischbeck, K. (1991) · Nature · doi:10.1038/352077a0 · Cited by 2,801
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
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
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
Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene
Mahadevan, M. S., Tsilfidis, C., Sabourin, L. A., Shutler, G., Amemiya, C. T., Jansen, G., Neville, C., Narang, M. A., Barceló, J. M., O'Hoy, K., et al. (1992) · Science · doi:10.1126/science.1546325 · Cited by 1,656
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
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
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Garnier, J., Weber, C., Mandel, J., Cancel‐Tassin, G., Abbas, N., et al. (1996) · Nature Genetics · doi:10.1038/ng1196-285 · Cited by 848

Show all 46 references

Sorted by citations

Microsatellites: genomic distribution, putative functions and mutational mechanisms: a review
Li, Y. C., Korol, A. B., Fahima, T., Beiles, A., & Nevo, E. (2002) · Molecular Ecology · doi:10.1046/j.1365-294x.2002.01643.x · Cited by 1,270
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
Microsatellite mutations in the germline:
Ellegren, H. (2000) · Trends in Genetics · doi:10.1016/s0168-9525(00)02139-9 · Cited by 679
Mechanisms of trinucleotide repeat instability during human development
McMurray, C. T. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2828 · Cited by 496
Understanding the molecular basis of fragile X syndrome
Jin, P. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.6.901 · Cited by 369
Germ-line mutations, DNA damage, and global hypermethylation in mice exposed to particulate air pollution in an urban/industrial location
Yauk, C. L., Polyzos, A. A., Rowan‐Carroll, A., Somers, C. M., Godschalk, R., van Schooten, F., Berndt, M. L., Pogribny, I. P., Koturbash, I., Williams, A., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0705896105 · Cited by 315
The rise, fall and renaissance of microsatellites in eukaryotic genomes
Buschiazzo, E., & Gemmell, N. J. (2006) · BioEssays · doi:10.1002/bies.20470 · Cited by 295
A Pan‐ E uropean Study of the C9orf72 Repeat Associated with FTLD : Geographic Prevalence, Genomic Instability, and Intermediate Repeats
van der Zee, J., Gijselinck, I., Dillen, L., Langenhove, T. V., Theuns, J., Engelborghs, S., Philtjens, S., Vandenbulcke, M., Sleegers, K., Sieben, A., et al. (2012) · Human Mutation · doi:10.1002/humu.22244 · Cited by 277
Disease-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
“Our observations add a 3D component to the locus-specific evidence that STR instability is linked to alterations of CTCF occupancy (Brock et al., 1999; Cleary et al., 2010; Filippova et al., 2001; Libby et al., 2008; Sopher et al., 2011).”
Background
Mutational Dynamics of Microsatellites
Bhargava, A., & Fuentes, F. (2009) · Molecular Biotechnology · doi:10.1007/s12033-009-9230-4 · Cited by 226
CTG 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
Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells
Cleary, J., Nichol, K., Wang, Y.-H., & Pearson, C. E. (2002) · Nature Genetics · doi:10.1038/ng870 · Cited by 206
R loops stimulate genetic instability of CTG·CAG repeats
Lin, Y., Dent, S., Wilson, J. H., Wells, R. D., & Напиерала, М. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0909740107 · Cited by 199
Repeat instability during DNA repair: Insights from model systems
Usdin, K., House, N. C. M., & Freudenreich, C. H. (2015) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.3109/10409238.2014.999192 · Cited by 174
MSH3 Polymorphisms and Protein Levels Affect CAG Repeat Instability in Huntington's Disease Mice
Tomé, S., MANLEY, K. M., Simard, J. P., Clark, G. W., Slean, M. M., Swami, M., Shelbourne, P., Tillier, E. R. M., Monckton, D. G., Messer, A. C., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003280 · Cited by 172
Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability
Seznec, H. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.8.1185 · Cited by 165
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients
Braida, C., Stefanatos, R. K. A., Adam, B., Mahajan, N., Smeets, H. J. M., Niel, F., Goizet, C., Arveiler, B., Koenig, M., Lagier‐Tourenne, C., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq015 · Cited by 165
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy
Michalik, A., Martin, J.-J., & Broeckhoven, C. V. (2003) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201108 · Cited by 153
Confirmation of the Type 2 Myotonic Dystrophy (CCTG) Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect
Bachinski, L. L., Udd, B., Meola, G., Sansone, V., Bassez, G., Eymard, B., Thornton, C. A., Moxley, R. T., Harper, P. S., Rogers, M. T., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/378566 · Cited by 142
The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidence
Cleary, J. D., & Pearson, C. E. (2003) · Cytogenetic and Genome Research · doi:10.1159/000072837 · Cited by 139
Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
Fortune, M. T. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.3.439 · Cited by 141
Features of trinucleotide repeat instability in vivo
Kovtun, I. V., & McMurray, C. T. (2008) · Cell Research · doi:10.1038/cr.2008.5 · Cited by 142
CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination
Libby, R. T., Hagerman, K. A., Pineda, V. V., Lau, R., Cho, D. H., Baccam, S. L., Axford, M. M., Cleary, J. D., Moore, J. M., Sopher, B. L., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000257 · Cited by 138
Microsatellite repeat instability and neurological disease
Brouwer, J. R., Willemsen, R., & Oostra, B. A. (2009) · BioEssays · doi:10.1002/bies.080122 · Cited by 144
Occurrence and Consequences of Coding Sequence Insertions and Deletions in Mammalian GenomesPreprint
Taylor, M. S., Ponting, C. P., & Copley, R. R. (2004) · Genome Research · doi:10.1101/gr.1977804 · Cited by 135
The intrinsically unstable life of DNA triplet repeats associated with human hereditary disorders
Bowater, R. P., & Wells, R. D. (2000) · Progress in nucleic acid research and molecular biology · doi:10.1016/s0079-6603(00)66029-4 · Cited by 129
Epigenetic mechanisms and genome stability
Putiri, E. L., & Robertson, K. D. (2010) · Clinical Epigenetics · doi:10.1007/s13148-010-0017-z · Cited by 133
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 117
DNA repeat expansions and human disease
Usdin, K., & Grabczyk, E. (2000) · Cellular and Molecular Life Sciences · doi:10.1007/pl00000734 · Cited by 106
MSH2-Dependent Germinal CTG Repeat Expansions Are Produced Continuously in Spermatogonia from DM1 Transgenic Mice
Savouret, C., Cordier, C., Megret, J., Riele, H. T., Junien, C., & Gourdon, G. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.24.2.629-637.2004 · Cited by 105
Huntington disease expansion mutations in humans can occur before meiosis is completed
Yoon, S., Dubeau, L., de Young, M., Wexler, N. S., & Arnheim, N. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1331390100 · Cited by 104
Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline
Dion, V., Lin, Y., Hubert, L., Waterland, R. A., & Wilson, J. H. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn019 · Cited by 95
Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice
Lloret, A., Dragileva, E., Teed, A. M., Espinola, J. A., Fossale, E., Gillis, T., Lopez, E., Myers, R. H., MacDonald, M. E., & Wheeler, V. C. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl125 · Cited by 92
Frequency and stability of the myotonic dystrophy type 1 premutation
Martorell, L., Monckton, D. G., Sánchez, A., de Munaín, A. L., & Baiget, M. (2001) · Neurology · doi:10.1212/wnl.56.3.328 · Cited by 88
Modifiers of CAG/CTG Repeat Instability: Insights from Mammalian Models
Wheeler, V. C., & Dion, V. (2021) · Journal of Huntington s Disease · doi:10.3233/jhd-200426 · Cited by 88
Replication fork dynamics and dynamic mutations: the fork-shift model of repeat instability
Cleary, J. D., & Pearson, C. E. (2005) · Trends in Genetics · doi:10.1016/j.tig.2005.03.008 · Cited by 90
Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17
Gao, R., Matsuura, T., Coolbaugh-Murphy, M. I., Zühlke, C., Nakamura, K., Rasmussen, A., Siciliano, M. J., Ashizawa, T., & Lin, X. (2007) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201954 · Cited by 82
Biased distribution of microsatellite motifs in the rice genome
Grover, A., Aishwarya, V., & Sharma, P. C. (2007) · Molecular Genetics and Genomics · doi:10.1007/s00438-006-0204-y · Cited by 78
Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice
Libby, R. T. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg006 · Cited by 75
Genetics of Huntington disease
NANCE, M. A. (2017) · Handbook of clinical neurology · doi:10.1016/b978-0-12-801893-4.00001-8 · Cited by 71
Low-complexity sequences and single amino acid repeats: not just “junk” peptide sequences
Haerty, W., & Golding, G. B. (2010) · Genome · doi:10.1139/g10-063 · Cited by 69
Very Large (CAG)n DNA Repeat Expansions in the Sperm of Two Spinocerebellar Ataxia Type 7 Males
Monckton, D. G., Cayuela, M. L., Gould, F. K., Brock, G., de Silva, R., & Ashizawa, T. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.13.2473 · Cited by 67
Chemical modifiers of unstable expanded simple sequence repeats: What goes up, could come down
Gomes-Pereira, M., & Monckton, D. G. (2006) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2006.01.011 · Cited by 74
Chemically induced increases and decreases in the rate of expansion of a CAG{middle dot}CTG triplet repeat
Gomes-Pereira, M. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh612 · Cited by 66
A Role for Selection in Regulating the Evolutionary Emergence of Disease-Causing and Other Coding CAG Repeats in Humans and Mice
Hancock, J. M., Worthey, E. A., & Santibanez‐Koref, M. (2001) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a003873 · Cited by 66
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
Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells
Pešović, J., Perić, S., Brkušanin, M., Brajušković, G. N., Rakočević-Stojanović, V., & Pavicevic, D. S. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00601 · Cited by 53
The Comparative Genomics of Polyglutamine Repeats: Extreme Difference in the Codon Organization of Repeat-Encoding Regions Between Mammals and Drosophila
Albà, M. M., Santibanez‐Koref, M., & Hancock, J. M. (2001) · Journal of Molecular Evolution · doi:10.1007/s002390010153 · Cited by 51
A Relationship Between Lengths of Microsatellites and Nearby Substitution Rates in Mammalian Genomes
Santibanez‐Koref, M., Gangeswaran, R., & Hancock, J. M. (2001) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a003753 · Cited by 47
SHOX point mutations in dyschondrosteosis
Huber, C., Cusin, V., Merrer, M. F. L., Mathieu, M., Sulmont, V., Dagoneau, N., Münnich, A., & Cormier‐Daire, V. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.5.323 · Cited by 46
Selectable System for Monitoring the Instability of CTG/CAG Triplet Repeats in Mammalian Cells
Gorbunova, V. A., Seluanov, A., Dion, V., Sándor, Z., Meservy, J. L., & Wilson, J. H. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.13.4485-4493.2003 · Cited by 41
Transgenic mouse models for myotonic dystrophy type 1 (DM1)
Wansink, D. G., & Wieringa, B. (2003) · Cytogenetic and Genome Research · doi:10.1159/000072859 · Cited by 37
Fen1 does not control somatic hypermutability of the (CTG)n· (CAG)n repeat in a knock‐in mouse model for DM1
van den Broek, W. J. A. A., Nelen, M. R., van der Heijden, G. W., Wansink, D. G., & Wieringa, B. (2006) · FEBS Letters · doi:10.1016/j.febslet.2006.08.059 · Cited by 38
Chromatin structure of repeating CTG/CAG and CGG/CCG sequences in human disease
Wang, Y. (2007) · Frontiers in bioscience · doi:10.2741/2422 · Cited by 38
Differential somatic CAG repeat instability in variable brain cell lineage in dentatorubral pallidoluysian atrophy (DRPLA): a laser-captured microdissection (LCM)-based analysis
Watanabe, H., Tanaka, F., Doyu, M., Riku, S., Yoshida, M., Hashizume, Y., & Sobue, G. (2000) · Human Genetics · doi:10.1007/s004390000400 · Cited by 38
RCPdb: An evolutionary classification and codon usage database for repeat-containing proteinsPreprint
Faux, N. G., Huttley, G. A., Mahmood, K., Webb, G. I., de la Banda, M. G., & Whisstock, J. C. (2007) · Genome Research · doi:10.1101/gr.6255407 · Cited by 35
Candidate DNA replication initiation regions at human trinucleotide repeat disease loci
Nenguke, T. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg111 · Cited by 34
Tandemly repeated DNA: Why should anyone care?
Armour, J. A. L. (2006) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2006.01.013 · Cited by 34
Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm
Zhang, Y. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.7.791 · Cited by 30
Simple sequence repeats (microsatellites): mutational mechanisms and contributions to bacterial pathogenesis. A meeting review
Bayliss, C. D., Dixon, K., & Moxon, E. R. (2003) · FEMS Immunology & Medical Microbiology · doi:10.1016/s0928-8244(03)00325-0 · Cited by 30
Cis‐acting factors promoting the CAG intergenerational instability in Machado–Joseph disease
Martins, S., Coutinho, P., Silveira, I., Giunti, P., Jardim, L. B., Calafell, F., Sequeiros, J., & Amorim, A. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30624 · Cited by 28
Epigenetics of the Myotonic Dystrophy-Associated DMPK gene neighborhood
Buckley, L., Lacey, M. R., & Ehrlich, M. (2016) · Epigenomics · doi:10.2217/epi.15.104 · Cited by 27
Role of DNA Methylation in Genome Stability
Zhou, D., & Robertson, K. D. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-803309-8.00024-0 · Cited by 25
Repeat-associated non-AUG translation induces cytoplasmic aggregation of CAG repeat-containing RNAs
Das, M. R., Chang, Y., Anderson, R., Saunders, R. A., Zhang, N., Tomberlin, C., Vale, R. D., & Jain, A. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2215071120 · Cited by 23
Identification of the Functional Initiation Codons of a Phase-Variable Gene of Haemophilus influenzae , lic2A , with the Potential for Differential Expression
Dixon, K., Bayliss, C. D., Makepeace, K., Moxon, E. R., & Hood, D. W. (2006) · Journal of Bacteriology · doi:10.1128/jb.00815-06 · Cited by 21
CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable loci
Rozanska, M., Sobczak, K., Jasinska, A. J., Напиерала, М., Kaczyńska, D., Czerny, A., Kozieł, M., Kozłowski, P., Olejniczak, M., & Krzyżosiak, W. J. (2007) · Human Mutation · doi:10.1002/humu.20466 · Cited by 21
A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry
Dawson, J., Baine, F., Ciosi, M., Maxwell, A., Monckton, D. G., & Krause, A. (2022) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2022.100130 · Cited by 20
The effects of transcription and recombination on mutational dynamics of short tandem repeats
Závodná, M., Bagshaw, A., Bräuning, R., & Gemmell, N. J. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx1253 · Cited by 20
Correlation of Inter-Locus Polyglutamine Toxicity with CAG•CTG Triplet Repeat Expandability and Flanking Genomic DNA GC Content
Nestor, C. E., & Monckton, D. G. (2011) · PLoS ONE · doi:10.1371/journal.pone.0028260 · Cited by 19
Microsatellite Motifs with Moderate GC Content Are Clustered Around Genes on Arabidopsis thaliana Chromosome 2
Grover, A., & Sharma, P. C. (2007) · In Silico Biology · doi:10.3233/isb-00291 · Cited by 19
Somatic CTG•CAG repeat instability in a mouse model for myotonic dystrophy type 1 is associated with changes in cell nuclearity and DNA ploidy
van den Broek, W. J. A. A., Wansink, D. G., & Wieringa, B. (2007) · BMC Molecular Biology · doi:10.1186/1471-2199-8-61 · Cited by 18
Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease
Higham, C. F., & Monckton, D. G. (2013) · Journal of The Royal Society Interface · doi:10.1098/rsif.2013.0605 · Cited by 17
Instability of CGG Repeats in Transgenic Mice
Baskaran, S., Datta, S., Mandal, A., Gulati, N., Totey, S. M., Anand, R. R., & Brahmachari, V. (2002) · Genomics · doi:10.1006/geno.2002.6813 · Cited by 18
Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7
Bauer, P. O., Kraus, J., Maťoška, V., Brouckova, M., Zumrová, A., & Goetz, P. (2004) · Journal of Neurology · doi:10.1007/s00415-004-0482-4 · Cited by 16
Detection of radiation and cyclophosphamide-induced mutations in individual mouse sperm at a human expanded trinucleotide repeat locus transgene
Zhang, Y., Monckton, D. G., Siciliano, M. J., Connor, T. H., & Meistrich, M. L. (2002) · Mutation Research/Genetic Toxicology and Environmental Mutagenesis · doi:10.1016/s1383-5718(02)00035-9 · Cited by 16
Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the disease
Spits, C., Seneca, S., Hilven, P., Liebaers, I., & Sermon, K. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.074211 · Cited by 17
Genetic and Epigenetic Interplay Define Disease Onset and Severity in Repeat Diseases
Barbé, L., & Finkbeiner, S. M. (2022) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2022.750629 · Cited by 15
Tandem repeats discovery service (TReaDS) applied to finding novel cis-acting factors in repeat expansion diseases
Pellegrini, M., Renda, M. E., & Vecchio, A. (2012) · BMC Bioinformatics · doi:10.1186/1471-2105-13-s4-s3 · Cited by 13
Homopeptide and homocodon levels across fungi are coupled to GC/AT-bias and intrinsic disorder, with unique behaviours for some amino acids
Wang, Y., & Harrison, P. M. (2021) · Scientific Reports · doi:10.1038/s41598-021-89650-1 · Cited by 13
Open chromatin structure in PolyQ disease-related genes: a potential mechanism for CAG repeat expansion in the normal human population
Sorek, M., Cohen, L. R. Z., & Meshorer, E. (2019) · NAR Genomics and Bioinformatics · doi:10.1093/nargab/lqz003 · Cited by 11
Myotonic Dystrophy: Discussion of Molecular Basis
Timchenko, L., Tapscott, S. J., Cooper, T. A., & Monckton, D. G. (2002) · Advances in experimental medicine and biology · doi:10.1007/978-1-4615-0117-6_2 · Cited by 12
Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease
Sidky, A. M., Melo, A. R. V., Kay, T. T., Raposo, M., Lima, M. C. F., & Monckton, D. G. (2024) · Human Genetics · doi:10.1007/s00439-024-02698-7 · Cited by 10
Common-variant associations with fragile X syndrome
Crowley, J. J., Szatkiewicz, J., Kähler, A. K., Giusti‐Rodríguez, P., Ancalade, N., Booker, J. K., Carr, J. L., Crawford, G. E., Losh, M. C., Stockmeier, C. A., et al. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0290-3 · Cited by 9
Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
Craig, K., Takiyama, Y., Soong, B., Jardim, L. B., Pereira, M. L. S., Lythgow, K. T., Morino, H., Maruyama, H., Kawakami, H., & Chinnery, P. F. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.20 · Cited by 10
Myotonic Dystrophy Type 2: Clinical and Genetic Aspects
Krahe, R., Bachinski, L. L., & Udd, B. (2006) · Elsevier eBooks · doi:10.1016/b978-012369462-1/50009-0 · Cited by 10
Single‐Sperm Typing
Lien, S., Szyda, J., Leeflang, E. P., Hubert, R., Zhang, L., Schmitt, K., & Arnheim, N. (2002) · Current Protocols in Human Genetics · doi:10.1002/0471142905.hg0106s32 · Cited by 10
Spinocerebellar Ataxia Type 10: A Disease Caused by a Large ATTCT Repeat Expansion
Matsuura, T., & Ashizawa, T. (2002) · Advances in experimental medicine and biology · doi:10.1007/978-1-4615-0117-6_4 · Cited by 9
Predisposing chromosome for spinocerebellar ataxia type 6 (SCA6) in Japanese
Yabe, I., Sasaki, H., Yamashita, I., Tashiro, K., Takei, A., Suzuki, Y., Kida, H., Takiyama, Y., Nishizawa, M., Hokezu, Y., et al. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.5.328 · Cited by 9
Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect?
Ennis, S., Murray, A., & Morton, N. E. (2001) · Human Mutation · doi:10.1002/humu.1150 · Cited by 9
High frequency of microsatellites in Drosophila pseudoobscura.
Warner, R. D., & Noor, M. A. F. (2000) · Genes & Genetic Systems · doi:10.1266/ggs.75.115 · Cited by 9
On the Structural Differences Between Markers and Genomic AC Microsatellites
Pardi, F., Sibly, R. M., Wilkinson, M. J., & Whittaker, J. C. (2005) · Journal of Molecular Evolution · doi:10.1007/s00239-004-0274-6 · Cited by 9
Transgenic Mouse Models of Unstable Trinucleotide Repeats: Toward an Understanding of Disease-Associated Repeat Size Mutation
Gomes-Pereira, M., Foiry, L., & Gourdon, G. (2006) · Elsevier eBooks · doi:10.1016/b978-012369462-1/50037-5 · Cited by 8
Spinocerebellar Ataxia Type 7: Clinical Features to Cellular Pathogenesis
Garden, G. A., Truant, R., Ellerby, L., & Spada, A. R. L. (2006) · Elsevier eBooks · doi:10.1016/b978-012369462-1/50028-4 · Cited by 7
Mechanism of Trinucleotide Repeats Instabilities: The Necessities of Repeat Non-B Secondary Structure Formation and the Roles of Cellular Trans-acting Factors
Pan, X. (2006) · Acta Genetica Sinica · doi:10.1016/s0379-4172(06)60001-2 · Cited by 7
The expansion of amino-acid repeats is not associated to adaptive evolution in mammalian genes
Cruz, F., Roux, J., & Robinson‐Rechavi, M. (2009) · BMC Genomics · doi:10.1186/1471-2164-10-619 · Cited by 6
Role of DNA methylation in genome stability
Kovalchuk, I. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-85679-9.00023-4 · Cited by 8
Tandem repetitions in transcriptomes of some Solanaceae species
Grover, A., & Sharma, P. C. (2012) · American Journal of Molecular Biology · doi:10.4236/ajmb.2012.22016 · Cited by 5
11q21.1‐11q23.3 Is a site of intrinsic genomic instability triggered by irradiation
Du, N., Baker, P. M., Do, T. U., Bien, C., Bier‐Laning, C. M., Singh, S., Shih, S., Diaz, M. O., & Vaughan, A. T. (2010) · Genes Chromosomes and Cancer · doi:10.1002/gcc.20791 · Cited by 4
Somatic Mosaicism of Expanded CAG·CTG Repeats in Humans and Mice: Dynamics, Mechanisms, and Consequences
Shelbourne, P., & Monckton, D. G. (2006) · Elsevier eBooks · doi:10.1016/b978-012369462-1/50036-3 · Cited by 4
Microsatellite Repeats: Canaries in the Coalmine
Chatterjee, N., Santillan, B. A., & Wilson, J. H. (2013) · Springer eBooks · doi:10.1007/978-1-4614-6280-4_7 · Cited by 6

Authors: Brock, G.
Affiliations: University of Glasgow (GB)
Corresponding author: Brock, G.
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 1999-06-01
Volume: 8
Issue: 6
Pages: 1061-1067
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/8.6.1061
OpenAlex: W2169098034
Cited by: 122
References: 46
Citations by year: 2025: 1 · 2024: 4 · 2023: 1 · 2022: 3 · 2021: 4 · 2020: 1 · 2019: 1 · 2018: 3 · 2017: 5 · 2016: 2 · 2015: 1 · 2013: 3 · 2012: 3
FWCI: 3.25
Type: journal article
Language: en
Open access: closed
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (submittedVersion)
HighWire Press Open Archive (submittedVersion)
Funders: Muscular Dystrophy Association
University of Glasgow
Lister Institute of Preventive Medicine
Medical Research Council
U.S. National Library of Medicine
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: CAG/CTG repeat expansion, trinucleotide repeat instability, CpG islands, Huntington's disease, myotonic dystrophy, spinocerebellar ataxia, intergenerational transmission
MeSH terms: Base Composition, DNA, Female, Genes, Humans, Male, Mutation, Regulatory Sequences, Nucleic Acid, Spermatozoa, CpG Islands, Trinucleotide Repeat Expansion

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks