{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:26:14Z","timestamp":1790774774010,"version":"4.1.0"},"reference-count":58,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2017,2,1]],"date-time":"2017-02-01T00:00:00Z","timestamp":1485907200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Huntington\u2019s disease (HD) is a neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat in exon\u00a01 of the HTT gene. Longer repeat sizes are associated with increased disease penetrance and earlier ages of onset. Intergenerationally unstable transmissions are common in HD families, partly underlying the genetic anticipation seen in this disorder. HD CAG knock-in mouse models also exhibit a propensity for intergenerational repeat size changes. In this work, we examine intergenerational instability of the CAG repeat in over 20,000 transmissions in the largest HD knock-in mouse model breeding datasets reported to date. We confirmed previous observations that parental sex drives the relative ratio of expansions and contractions. The large datasets further allowed us to distinguish effects of paternal CAG repeat length on the magnitude and frequency of expansions and contractions, as well as the identification of large repeat size jumps in the knock-in models. Distinct degrees of intergenerational instability were observed between knock-in mice of six background strains, indicating the occurrence of trans-acting genetic modifiers. We also found that lines harboring a neomycin resistance cassette upstream of Htt showed reduced expansion frequency, indicative of a contributing role for sequences in cis, with the expanded repeat as modifiers of intergenerational instability. These results provide a basis for further understanding of the mechanisms underlying intergenerational repeat instability.<\/jats:p>","DOI":"10.1534\/genetics.116.195578","type":"journal-article","created":{"date-parts":[[2016,12,3]],"date-time":"2016-12-03T03:40:26Z","timestamp":1480736426000},"page":"503-516","source":"Crossref","is-referenced-by-count":31,"title":["Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington\u2019s Disease Knock-In Mice"],"prefix":"10.1093","volume":"205","author":[{"given":"Jo\u00e3o Lu\u00eds","family":"Neto","sequence":"first","affiliation":[{"name":"Center for Human Genetic Research , Massachusetts General Hospital, Boston, Massachusetts 02114"},{"name":"UnIGENe , Instituto de Biologia Molecular e Celular and Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Porto 4200, Portugal"},{"name":"Graduate Program in Areas of Basic and Applied Biology , Abel Salazar Biomedical Sciences Institute, University of Porto, 4050, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong-Min","family":"Lee","sequence":"additional","affiliation":[{"name":"Center for Human Genetic Research , Massachusetts General Hospital, Boston, Massachusetts 02114"},{"name":"Department of Neurology , Harvard Medical School, Boston, Massachusetts 02115"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Afridi","sequence":"additional","affiliation":[{"name":"Center for Human Genetic Research , Massachusetts General Hospital, Boston, Massachusetts 02114"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tammy","family":"Gillis","sequence":"additional","affiliation":[{"name":"Center for Human Genetic Research , Massachusetts General Hospital, Boston, Massachusetts 02114"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolene R","family":"Guide","sequence":"additional","affiliation":[{"name":"Center for Human Genetic Research , Massachusetts General Hospital, Boston, Massachusetts 02114"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephani","family":"Dempsey","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory , Bar Harbor, Maine 04609"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brenda","family":"Lager","sequence":"additional","affiliation":[{"name":"CHDI (Cure Huntington's Disease Initiative Foundation) , Princeton, New Jersey 08540"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Alonso","sequence":"additional","affiliation":[{"name":"UnIGENe , Instituto de Biologia Molecular e Celular and Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Porto 4200, Portugal"},{"name":"Instituto de Ci\u00eancias Biom\u00e9dicas Abel Salazar , University of Porto, 4050, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa C","family":"Wheeler","sequence":"additional","affiliation":[{"name":"Center for Human Genetic Research , Massachusetts General Hospital, Boston, Massachusetts 02114"},{"name":"Department of Neurology , Harvard Medical School, Boston, Massachusetts 02115"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo Mouro","family":"Pinto","sequence":"additional","affiliation":[{"name":"Center for Human Genetic Research , Massachusetts General Hospital, Boston, Massachusetts 02114"},{"name":"Department of Neurology , Harvard Medical School, Boston, Massachusetts 02115"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,2,1]]},"reference":[{"key":"2022110309194971700_bib1","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1038\/nbt.3587","article-title":"Large-scale phenome analysis defines a behavioral signature for Huntington\u2019s disease genotype in mice.","volume":"34","author":"Alexandrov","year":"2016","journal-title":"Nat. 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