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

Afgan E, Baker D, van den Beek M et al (2016) The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2016 update. Nuc Acids Res 44:W3–W10. https://doi.org/10.1093/nar/gkw343

Article  CAS  Google Scholar 

Akcimen F, Martins S, Liao C et al (2020) Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease. Aging 12:4742–4756. https://doi.org/10.18632/aging.102825

Article  CAS  PubMed  PubMed Central  Google Scholar 

Auton A, Abecasis GR, Altshuler DM et al (2015) A global reference for human genetic variation. Nature 526:68–74. https://doi.org/10.1038/nature15393

Article  CAS  PubMed  Google Scholar 

Benn C, Gibson K, Reynolds DD (2021) Drugging DNA damage repair pathways for trinucleotide repeat expansion diseases. J Huntingtons Dis 10:203–220. https://doi.org/10.3233/JHD-200421

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bettencourt C, Fialho RN, Santos C, Montiel R, Bruges-Armas J, Maciel P, Lima M (2008) Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal). J Hum Genet 53:333–339. https://doi.org/10.1007/s10038-008-0261-7

Article  CAS  PubMed  Google Scholar 

Bettencourt C, Santos C, Montiel R, Costa MdC, Cruz-Morales P, Santos LR, Simões N, Kay T, Vasconcelos J, Maciel P, Lima M (2009) Increased transcript diversity: novel splicing variants of Machado–Joseph Disease gene (ATXN3). Neurogenetics 11:193–202. https://doi.org/10.1007/s10048-009-0216-y

Article  CAS  PubMed  Google Scholar 

Brock GJR, Anderson NH, Monckton DG (1999) Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands. Hum Mol Genet 8:1061–1067. https://doi.org/10.1093/hmg/8.6.1061

Article  CAS  PubMed  Google Scholar 

Bunting EL, Hamilton J, Tabrizi SJ (2022) Polyglutamine diseases. Curr Opin Neurobiol 72:39–47. https://doi.org/10.1016/j.conb.2021.07.001

Article  CAS  PubMed  Google Scholar 

Cancel G, Abbas N, Stevanin G, Dürr A, Chneiweiss H, Néri C, Duyckaerts C, Penet C, Cann HM, Agid Y, Brice A (1995) Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. Am J Hum Genet 57:809–816

CAS  PubMed  PubMed Central  Google Scholar 

Cancel G, Gourfinkel-An I, Stevanin G, Didierjean O, Abbas N, Hirsch E, Agid Y, Brice A (1998) Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease. Hum Mut 11:23–27. https://doi.org/10.1002/(SICI)1098-1004(1998)11:1003C;23::AID-HUMU4003E;3.0.CO;2-M

Article  CAS  PubMed  Google Scholar 

Chastain PD 2nd, Eichler EE, Kang S, Nelson DL, Levene SD, Sinden RR (1995) Anomalous rapid electrophoretic mobility of DNA containing triplet repeats associated with human disease genes. Biochemistry 34:16125–16131. https://doi.org/10.1021/bi00049a027

Article  CAS  PubMed  Google Scholar 

Ciosi M, Cumming SA, Alshammari AM, Symeonidi E, Herzyk P, McGuinness D, Galbraith J, Hamilton G, Monckton DG (2018) Library preparation and MiSeq sequencing for the genotyping-by-sequencing of the Huntington disease HTT exon one trinucleotide repeat and the quantification of somatic mosaicism. Protoc Exch. https://doi.org/10.1038/protex.2018.089

Article  Google Scholar 

Ciosi M, Maxwell A, Cumming SA et al (2019) A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes. EBioMedicine 48:568–580. https://doi.org/10.1016/j.ebiom.2019.09.020

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cubo E, Martinez-Horta SI, Santalo FS et al (2019) Clinical manifestations of homozygote allele carriers in Huntington disease. Neurology 92:e2101–e2108. https://doi.org/10.1212/WNL.0000000000007147

Article  CAS  PubMed  Google Scholar 

de Araújo MA, Raposo M, Kazachkova N, Vasconcelos J, Kay T, Lima M (2016) Trends in the epidemiology of spinocerebellar ataxia type 3/Machado-Joseph disease in the Azores islands, Portugal. JSM Brain Sci 1:1001. https://doi.org/10.47739/2573-1289/1001

Article  Google Scholar 

de Mattos EP, Kolbe Musskopf M, Bielefeldt Leotti V, Saraiva-Pereira ML, Jardim LB (2019) Genetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 90:203–210. https://doi.org/10.1136/jnnp-2018-319200

Article  PubMed  Google Scholar 

Depienne C, Mandel JL (2021) 30 years of repeat expansion disorders: what have we learned and what are the remaining challenges? Am J Hum Genet 108:764–785. https://doi.org/10.1016/j.ajhg.2021.03.011

Article  CAS  PubMed  PubMed Central  Google Scholar 

Durr A, Stevanin G, Cancel G et al (1996) Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 39:490–499. https://doi.org/10.1002/ana.410390411

Article  CAS  PubMed  Google Scholar 

Gardiner SL, Boogaard MW, Trompet S, de Mutsert R, Rosendaal FR, Gussekloo J, Jukema JW, Roos RAC, Aziz NA (2019) Prevalence of carriers of intermediate and pathological polyglutamine disease-associated alleles among large population-based cohorts. JAMA Neurol 76:650–656. https://doi.org/10.1001/jamaneurol.2019.0423

Article  PubMed  Google Scholar 

Gaspar C, Lopes-Cendes I, Hayes S et al (2001) Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study. Am J Hum Genet 68:523–528. https://doi.org/10.1086/318184

Article  CAS  PubMed  Google Scholar 

Genetic Modifiers of Huntington’s Disease Consortium, Lee JM, Correia K et al (2019) CAG repeat not polyglutamine length determines timing of Huntington’s disease onset. Cell 178:887–900. https://doi.org/10.1016/j.cell.2019.06.036

Article  CAS  Google Scholar 

Grewal RP, Cancel G, Leeflang EP, Durr A, McPeek MS, Draghinas D, Yao X, Stevanin G, Alnot MO, Brice A, Arnheim N (1999) French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis. Hum Mol Genet 8:1779–1784. https://doi.org/10.1093/hmg/8.9.1779

Article  CAS  PubMed  Google Scholar 

Hafford-Tear NJ, Tsai YC, Sadan AN, Sanchez-Pintado B, Zarouchlioti C, Maher GJ, Liskova P, Tuft SJ, Hardcastle AJ, Clark TA, Davidson AE (2019) CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat. Genet Med 21:2092–2102. https://doi.org/10.1038/s41436-019-0453-x

Article  PubMed  PubMed Central  Google Scholar 

Harris GM, Dodelzon K, Gong L, Gonzalez-Alegre P, Paulson HL (2010) Splice isoforms of the polyglutamine disease protein ataxin-3 exhibit similar enzymatic yet different aggregation properties. PLoS ONE 5:e13695. https://doi.org/10.1371/journal.pone.0013695

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hashida H, Goto J, Kurisaki H, Mizusawa H, Kanazawa I (1997) Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral pallidoluysian atrophy, Machado Joseph disease, and spinocerebellar ataxia type 1. Ann Neurol 41:505–511. https://doi.org/10.1002/ana.410410414

Article  CAS  PubMed  Google Scholar 

Hong EP, MacDonald ME, Wheeler VC, Jones L, Holmans P, Orth M, Monckton DG, Long JD, Kwak S, Gusella JF, Lee JM (2021) Huntington’s disease pathogenesis: two sequential components. J Huntingtons Dis 10:35–51. https://doi.org/10.3233/JHD-200427

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hoschek F, Natan J, Wagner M, Sathasivam K, Abdelmoez A, von Einem B, Bates GP, Landwehrmeyer GB, Neueder A (2024) Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues. Mol Med 30:36. https://doi.org/10.1186/s10020-024-00801-2

Article  CAS  PubMed  PubMed Central  Google Scholar 

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