{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T22:20:45Z","timestamp":1792794045235,"version":"4.5.0"},"reference-count":53,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2019,6,19]],"date-time":"2019-06-19T00:00:00Z","timestamp":1560902400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"UK Dementia Research Institute","id":[{"id":"https:\/\/ror.org\/02wedp412","id-type":"ROR","asserted-by":"crossref"}]},{"name":"European Union, Medical Research Council","id":[{"id":"https:\/\/ror.org\/019w4f821","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The mismatch repair gene MSH3 has been implicated as a genetic modifier of the CAG\u00b7CTG repeat expansion disorders Huntington\u2019s disease and myotonic dystrophy type 1. A recent Huntington\u2019s disease genome-wide association study found rs557874766, an imputed single nucleotide polymorphism located within a polymorphic 9 bp tandem repeat in MSH3\/DHFR, as the variant most significantly associated with progression in Huntington\u2019s disease. Using Illumina sequencing in Huntington\u2019s disease and myotonic dystrophy type 1 subjects, we show that rs557874766 is an alignment artefact, the minor allele for which corresponds to a three-repeat allele in MSH3 exon 1 that is associated with a reduced rate of somatic CAG\u00b7CTG expansion (P = 0.004) and delayed disease onset (P = 0.003) in both Huntington\u2019s disease and myotonic dystrophy type 1, and slower progression (P = 3.86 \u00d7 10\u22127) in Huntington\u2019s disease. RNA-Seq of whole blood in the Huntington\u2019s disease subjects found that repeat variants are associated with MSH3 and DHFR expression. A transcriptome-wide association study in the Huntington\u2019s disease cohort found increased MSH3 and DHFR expression are associated with disease progression. These results suggest that variation in the MSH3 exon 1 repeat region influences somatic expansion and disease phenotype in Huntington\u2019s disease and myotonic dystrophy type 1, and suggests a common DNA repair mechanism operates in both repeat expansion diseases.<\/jats:p>","DOI":"10.1093\/brain\/awz115","type":"journal-article","created":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T23:13:33Z","timestamp":1555024413000},"page":"1876-1886","source":"Crossref","is-referenced-by-count":174,"title":["MSH3 modifies somatic instability and disease severity in Huntington\u2019s and myotonic dystrophy type 1"],"prefix":"10.1093","volume":"142","author":[{"given":"Michael","family":"Flower","sequence":"first","affiliation":[{"name":"Department of Neurodegenerative Disease and Dementia Research Institute, UCL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vilija","family":"Lomeikaite","sequence":"additional","affiliation":[{"name":"Institute of Molecular, Cell and Systems Biology, University of Glasgow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Ciosi","sequence":"additional","affiliation":[{"name":"Institute of Molecular, Cell and Systems Biology, University of Glasgow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Cumming","sequence":"additional","affiliation":[{"name":"Institute of Molecular, Cell and Systems Biology, University of Glasgow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Morales","sequence":"additional","affiliation":[{"name":"Institute of Molecular, Cell and Systems Biology, University of Glasgow, UK"},{"name":"Instituto de Investigaciones en Salud (INISA), Universidad de Costa Rica, San Jos\u00e9, Costa Rica"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kitty","family":"Lo","sequence":"additional","affiliation":[{"name":"School of Mathematics and Statistics, University of Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davina","family":"Hensman Moss","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Disease and Dementia Research Institute, UCL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesley","family":"Jones","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Holmans","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darren G","family":"Monckton","sequence":"additional","affiliation":[{"name":"Institute of Molecular, Cell and Systems Biology, University of Glasgow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah J","family":"Tabrizi","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Disease and Dementia Research Institute, UCL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"TRACK-HD Investigators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kraus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainer","family":"Hoffman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Tobin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth","family":"Borowsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Keenan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn B","family":"Whitlock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Queller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiachi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doug","family":"Langbehn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Axelson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanka","family":"Acharya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dave M","family":"Cash","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Frost","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Jurgens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen P","family":"\u2018t Hart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen","family":"van der Grond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Noelle N","family":"Witjes- Ane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymund A C","family":"Roos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eve M","family":"Dumas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon J A","family":"van den Bogaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl","family":"Stopford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Craufurd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Callaghan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Arran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana D","family":"Rosas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W","family":"Monaco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"O\u2019Regan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cassie","family":"Milchman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Frajman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Izelle","family":"Labuschagne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Stout","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie C","family":"Andrews","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Bechtel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralf","family":"Reilmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Bohlen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Kennard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Berna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Hicks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Pourchot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Bardinet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Nigaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romain","family":"Valabre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"`","family":"gue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephane","family":"Lehericy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Marelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celine","family":"Jauffret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damian","family":"Justo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blair","family":"Leavitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joji","family":"Decolongon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron","family":"Sturrock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Coleman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachelle Dar","family":"Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Gibbard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisy","family":"Whitehead","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ed","family":"Wild","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail","family":"Owen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Crawford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Malone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nayana","family":"Lahiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick C","family":"Fox","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola Z","family":"Hobbs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachael I","family":"Scahill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger","family":"Ordidge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracey","family":"Pepple","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joy","family":"Read","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miranda J","family":"Say","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Landwehrmeyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"OPTIMISTIC Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferroudja","family":"Daidj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Bassez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baptiste","family":"Lignier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Couppey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Delmas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Fran\u00e7ois","family":"Deux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina","family":"Hankiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celine","family":"Dogan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Minier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Chevalier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amira","family":"Hamadouche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Catt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"van Hees","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Catt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ameli","family":"Schwalber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliane","family":"Dittrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Kierkegaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Wenninger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Sch\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Stahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"K\u00fcnzel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Wolff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Jellinek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia Jimenez","family":"Moreno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grainne","family":"Gorman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Trenell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"van Laar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Libby","family":"Wood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Cassidy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Newman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Charman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renae","family":"Steffaneti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan","family":"Brownrigg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Day","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Atalaia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joost","family":"Raaphorst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kees","family":"Okkersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baziel","family":"van Engelen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Nikolaus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Cornelissen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marlies","family":"van Nimwegen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daphne","family":"Maas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Klerks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sacha","family":"Bouman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Knoop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Heskamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arend","family":"Heerschap","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ridho","family":"Rahmadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perry","family":"Groot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Heskes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Kapusta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey","family":"Glennon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaghayegh","family":"Abghari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Armaz","family":"Aschrafi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geert","family":"Poelmans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaun","family":"Treweek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Hogarth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Littleford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Donnan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian","family":"Hapca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Hannah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"McKenzie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Rauchhaus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah A","family":"Cumming","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8298-8264","authenticated-orcid":false,"given":"Darren G","family":"Monckton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berit","family":"Adam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catharina","family":"Faber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingemar","family":"Merkies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,6,19]]},"reference":[{"key":"2019062810130662000_awz115-B1","doi-asserted-by":"crossref","first-page":"2674","DOI":"10.1212\/WNL.43.12.2674","article-title":"Somatic instability of CTG repeat in myotonic dystrophy","volume":"43","author":"Ashizawa","year":"1993","journal-title":"Neurology"},{"key":"2019062810130662000_awz115-B2","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1093\/oxfordjournals.molbev.a026036","article-title":"Median-joining networks for inferring intraspecific phylogenies","volume":"16","author":"Bandelt","year":"1999","journal-title":"Mol Biol Evol"},{"key":"2019062810130662000_awz115-B3","volume-title":"Huntington\u2019s disease","author":"Bates","year":"2014"},{"key":"2019062810130662000_awz115-B4","doi-asserted-by":"crossref","first-page":"15005","DOI":"10.1038\/nrdp.2015.5","article-title":"Huntington disease","volume":"1","author":"Bates","year":"2015","journal-title":"Nat Rev Dis Primers"},{"key":"2019062810130662000_awz115-B5","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1002\/ana.24656","article-title":"DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases","volume":"79","author":"Bettencourt","year":"2016","journal-title":"Ann Neurol"},{"key":"2019062810130662000_awz115-B6","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/0092-8674(92)90154-5","article-title":"Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3\u2019 end of a transcript encoding a protein kinase family member","volume":"68","author":"Brook","year":"1992","journal-title":"Cell"},{"key":"2019062810130662000_awz115-B7","doi-asserted-by":"crossref","DOI":"10.1038\/protex.2018.089","article-title":"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","author":"Ciosi","year":"2018"},{"key":"2019062810130662000_awz115-B8","doi-asserted-by":"crossref","first-page":"36498","DOI":"10.1074\/jbc.C000513200","article-title":"Functional interaction of proliferating cell nuclear antigen with MSH2-MSH6 and MSH2-MSH3 complexes","volume":"275","author":"Clark","year":"2000","journal-title":"J Biol Chem"},{"key":"2019062810130662000_awz115-B9","unstructured":"CMC. CommonMind Consortium Knowledge Portal. 2017. Available from: https:\/\/www.synapse.org\/\/#!Synapse:syn2759792\/wiki\/ (10 August 2017, date last accessed)."},{"key":"2019062810130662000_awz115-B10","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1038\/s41431-018-0156-9","article-title":"De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1","volume":"26","author":"Cumming","year":"2018","journal-title":"Eur J Hum Genet"},{"key":"2019062810130662000_awz115-B11","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.nbd.2008.09.014","article-title":"Intergenerational and striatal CAG repeat instability in Huntington\u2019s disease knock-in mice involve different DNA repair genes","volume":"33","author":"Dragileva","year":"2009","journal-title":"Neurobiol Dis"},{"key":"2019062810130662000_awz115-B12","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/S0065-2571(98)00013-2","article-title":"Genomic amplification of the human DHFR\/MSH3 locus remodels mismatch recognition and repair activities","volume":"39","author":"Drummond","year":"1999","journal-title":"Adv Enzyme Regul"},{"key":"2019062810130662000_awz115-B13","first-page":"803","article-title":"The DNA mismatch repair genes Msh3 and Msh6 cooperate in intestinal tumor suppression","volume":"60","author":"Edelmann","year":"2000","journal-title":"Cancer Res"},{"key":"2019062810130662000_awz115-B14","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1038\/81708","article-title":"Proliferating cell nuclear antigen and Msh2p-Msh6p interact to form an active mispair recognition complex","volume":"26","author":"Flores-Rozas","year":"2000","journal-title":"Nat Genet"},{"key":"2019062810130662000_awz115-B15","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1007\/s00439-006-0164-7","article-title":"Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice","volume":"119","author":"Foiry","year":"2006","journal-title":"Hum Genet"},{"key":"2019062810130662000_awz115-B16","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/0092-8674(95)90074-8","article-title":"Trinucleotide repeats that expand in human disease form hairpin structures in vitro","volume":"81","author":"Gacy","year":"1995","journal-title":"Cell"},{"key":"2019062810130662000_awz115-B17","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1016\/j.cell.2015.07.003","article-title":"Identification of genetic factors that modify clinical onset of Huntington\u2019s disease","volume":"162","year":"2015","journal-title":"Cell"},{"key":"2019062810130662000_awz115-B18","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.dnarep.2015.04.010","article-title":"Exonuclease 1-dependent and independent mismatch repair","volume":"32","author":"Goellner","year":"2015","journal-title":"DNA Repair"},{"key":"2019062810130662000_awz115-B19","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1126\/science.1262110","article-title":"Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans","volume":"348","author":"GTEx","year":"2015","journal-title":"Science (New York, NY)"},{"key":"2019062810130662000_awz115-B20","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/ng.3506","article-title":"Integrative approaches for large-scale transcriptome-wide association studies","volume":"48","author":"Gusev","year":"2016","journal-title":"Nat Genet"},{"key":"2019062810130662000_awz115-B21","volume-title":"Myotonic dystrophy","author":"Harper","year":"2001"},{"key":"2019062810130662000_awz115-B22","doi-asserted-by":"crossref","first-page":"8465","DOI":"10.1158\/0008-5472.CAN-08-0002","article-title":"Genetic instability caused by loss of MutS homologue 3 in human colorectal cancer","volume":"68","author":"Haugen","year":"2008","journal-title":"Cancer Res"},{"key":"2019062810130662000_awz115-B24","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1136\/jmg.29.11.774","article-title":"The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy","volume":"29","author":"Hunter","year":"1992","journal-title":"J Med Genet"},{"key":"2019062810130662000_awz115-B25","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/nrm1907","article-title":"The multifaceted mismatch-repair system","volume":"7","author":"Jiricny","year":"2006","journal-title":"Nat Rev Mol Cell Biol"},{"key":"2019062810130662000_awz115-B26","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1038\/nprot.2012.085","article-title":"Template-based protein structure modeling using the RaptorX web server","volume":"7","author":"Kallberg","year":"2012","journal-title":"Nat Protoc"},{"key":"2019062810130662000_awz115-B27","doi-asserted-by":"crossref","first-page":"3359","DOI":"10.1093\/hmg\/ddg352","article-title":"Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis","volume":"12","author":"Kennedy","year":"2003","journal-title":"Hum Mol Genet"},{"key":"2019062810130662000_awz115-B28","doi-asserted-by":"crossref","first-page":"e1004162","DOI":"10.1371\/journal.pcbi.1004162","article-title":"Twisting right to left: A\u2026A mismatch in a CAG trinucleotide repeat overexpansion provokes left-handed Z-DNA conformation","volume":"11","author":"Khan","year":"2015","journal-title":"PLoS Comput Biol"},{"key":"2019062810130662000_awz115-B29","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1101\/gad.191201","article-title":"hMSH3 and hMSH6 interact with PCNA and colocalize with it to replication foci","volume":"15","author":"Kleczkowska","year":"2001","journal-title":"Genes Dev"},{"key":"2019062810130662000_awz115-B30","doi-asserted-by":"crossref","first-page":"3859","DOI":"10.1093\/hmg\/ddx286","article-title":"A modifier of Huntington\u2019s disease onset at the MLH1 locus","volume":"26","author":"Lee","year":"2017","journal-title":"Hum Mol Genet"},{"key":"2019062810130662000_awz115-B31","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/bies.200800195","article-title":"A tale of tails: insights into the coordination of 3\u2032 end processing during homologous recombination","volume":"31","author":"Lyndaker","year":"2009","journal-title":"Bioessays"},{"key":"2019062810130662000_awz115-B32","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1016\/j.bbadis.2014.05.019","article-title":"Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms","volume":"1852","author":"Meola","year":"2015","journal-title":"Biochim Biophys Acta"},{"key":"2019062810130662000_awz115-B33","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1093\/bib\/bbs012","article-title":"Using tablet for visual exploration of second-generation sequencing data","volume":"14","author":"Milne","year":"2013","journal-title":"Brief Bioinform"},{"key":"2019062810130662000_awz115-B34","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1038\/nature05977","article-title":"Expandable DNA repeats and human disease","volume":"447","author":"Mirkin","year":"2007","journal-title":"Nature"},{"key":"2019062810130662000_awz115-B35","doi-asserted-by":"crossref","first-page":"3558","DOI":"10.1093\/hmg\/dds185","article-title":"Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity","volume":"21","author":"Morales","year":"2012","journal-title":"Hum Mol Genet"},{"key":"2019062810130662000_awz115-B36","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.dnarep.2016.01.001","article-title":"A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients","volume":"40","author":"Morales","year":"2016","journal-title":"DNA Repair"},{"key":"2019062810130662000_awz115-B37","volume-title":"Somatic mosaicism and genotype-phenotype correlations in myotonic dystrophy type 1","author":"Morales","year":"2006"},{"key":"2019062810130662000_awz115-B23","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/S1474-4422(17)30161-8","article-title":"Identification of genetic variants associated with Huntington\u2019s disease progression: a genome-wide association study","volume":"16","author":"Moss","year":"2017","journal-title":"Lancet Neurol"},{"key":"2019062810130662000_awz115-B38","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/BF01900603","article-title":"Nine-bp repeat polymorphism in exon 1 of the hMSH3 gene","volume":"40","author":"Nakajima","year":"1995","journal-title":"Jpn J Hum Genet"},{"key":"2019062810130662000_awz115-B39","doi-asserted-by":"crossref","first-page":"1700077","DOI":"10.1002\/bies.201700077","article-title":"Precarious maintenance of simple DNA repeats in eukaryotes","volume":"39","author":"Neil","year":"2017","journal-title":"BioEssays"},{"key":"2019062810130662000_awz115-B40","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/nsmb965","article-title":"CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition","volume":"12","author":"Owen","year":"2005","journal-title":"Nat Struct Mol Biol"},{"key":"2019062810130662000_awz115-B41","doi-asserted-by":"crossref","first-page":"e1003930","DOI":"10.1371\/journal.pgen.1003930","article-title":"Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington\u2019s disease mice: genome-wide and candidate approaches","volume":"9","author":"Pinto","year":"2013","journal-title":"PLoS Genet"},{"key":"2019062810130662000_awz115-B42","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for whole-genome association and population-based linkage analyses","volume":"81","author":"Purcell","year":"2007","journal-title":"Am J Hum Genet"},{"key":"2019062810130662000_awz115-B151","unstructured":"R Core Team (2013). R: A language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing. http:\/\/www.R-project.org\/."},{"key":"2019062810130662000_awz115-B43","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.dnarep.2015.11.008","article-title":"Disease-associated repeat instability and mismatch repair","volume":"38","author":"Schmidt","year":"2016","journal-title":"DNA Repair"},{"key":"2019062810130662000_awz115-B44","doi-asserted-by":"crossref","first-page":"33011","DOI":"10.1074\/jbc.M102670200","article-title":"The interaction of DNA mismatch repair proteins with human exonuclease I","volume":"276","author":"Schmutte","year":"2001","journal-title":"J Biol Chem"},{"key":"2019062810130662000_awz115-B45","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1093\/hmg\/ddm054","article-title":"Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain","volume":"16","author":"Shelbourne","year":"2007","journal-title":"Hum Mol Gen"},{"key":"2019062810130662000_awz115-B46","doi-asserted-by":"crossref","first-page":"3039","DOI":"10.1093\/hmg\/ddp242","article-title":"Somatic expansion of the Huntington\u2019s disease CAG repeat in the brain is associated with an earlier age of disease onset","volume":"18","author":"Swami","year":"2009","journal-title":"Hum Mol Genet"},{"key":"2019062810130662000_awz115-B47","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/S1474-4422(09)70170-X","article-title":"Biological and clinical manifestations of Huntington\u2019s disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data","volume":"8","author":"Tabrizi","year":"2009","journal-title":"Lancet Neurol"},{"key":"2019062810130662000_awz115-B48","unstructured":"Team RC. R: a language and environment for statistical computing. 2013. Available from: http:\/\/www.R-project.org\/ (27 August 2018, date last accessed)."},{"key":"2019062810130662000_awz115-B49","doi-asserted-by":"crossref","first-page":"e1003280","DOI":"10.1371\/journal.pgen.1003280","article-title":"MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington\u2019s disease mice","volume":"9","author":"Tome","year":"2013","journal-title":"PLoS Genet"},{"key":"2019062810130662000_awz115-B50","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1093\/hmg\/11.2.191","article-title":"Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins","volume":"11","author":"van den Broek","year":"2002","journal-title":"Hum Mol Genet"},{"key":"2019062810130662000_awz115-B51","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1186\/s13063-015-0737-7","article-title":"Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial","volume":"16","author":"van Engelen","year":"2015","journal-title":"Trials"},{"key":"2019062810130662000_awz115-B52","doi-asserted-by":"crossref","first-page":"2190","DOI":"10.1093\/bioinformatics\/btq340","article-title":"METAL: fast and efficient meta-analysis of genomewide association scans","volume":"26","author":"Willer","year":"2010","journal-title":"Bioinformatics"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/advance-article-pdf\/doi\/10.1093\/brain\/awz115\/28843867\/awz115.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/142\/7\/1876\/28881461\/awz115.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,28]],"date-time":"2019-06-28T10:27:56Z","timestamp":1561717676000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/142\/7\/1876\/5520687"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,19]]},"references-count":53,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2019,6,19]]},"published-print":{"date-parts":[[2019,7,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awz115","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,7]]},"published":{"date-parts":[[2019,6,19]]}}}