{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T10:46:16Z","timestamp":1788432376679,"version":"build-2803163510"},"reference-count":34,"publisher":"Oxford University Press (OUP)","issue":"18","license":[{"start":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T00:00:00Z","timestamp":1717459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Spinocerebellar ataxia type 10 (SCA10) is a rare autosomal dominant ataxia caused by a large expansion of the (ATTCT)n repeat in ATXN10. SCA10 was described in Native American and Asian individuals which prompted a search for an expanded haplotype to confirm a common ancestral origin for the expansion event. All patients with SCA10 expansions in our cohort share a single haplotype defined at the 5\u2032-end by the minor allele of rs41524547, located ~35\u00a0kb upstream of the SCA10 expansion. Intriguingly, rs41524547 is located within the miRNA gene, MIR4762, within its DROSHA cleavage site and just outside the seed sequence for mir4792-5p. The world-wide frequency of rs41524547-G is less than 5% and found almost exclusively in the Americas and East Asia\u2014a geographic distribution that mirrors reported SCA10 cases. We identified rs41524547-G(+) DNA from the 1000 Genomes\/International Genome Sample Resource and our own general population samples and identified SCA10 repeat expansions in up to 25% of these samples. The reduced penetrance of these SCA10 expansions may be explained by a young (pre-onset) age at sample collection, a small repeat size, purity of repeat units, or the disruption of miR4762-5p function. We conclude that rs41524547-G is the most robust at-risk SNP allele for SCA10, is useful for screening of SCA10 expansions in population genetics studies and provides the most compelling evidence to date for a single, prehistoric origin of SCA10 expansions sometime prior to or during the migration of individuals across the Bering Land Bridge into the Americas.<\/jats:p>","DOI":"10.1093\/hmg\/ddae092","type":"journal-article","created":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T00:24:21Z","timestamp":1717547061000},"page":"1567-1574","source":"Crossref","is-referenced-by-count":7,"title":["Extended haplotype with rs41524547-G defines the ancestral origin of SCA10"],"prefix":"10.1093","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9952-8678","authenticated-orcid":false,"given":"Karen N","family":"McFarland","sequence":"first","affiliation":[{"name":"Department of Neurology , College of Medicine, The McKnight Brain Institute, , 1149 South Newell Drive, Gainesville, FL 32610 ,","place":["United States"]},{"name":"University of Florida , College of Medicine, The McKnight Brain Institute, , 1149 South Newell Drive, Gainesville, FL 32610 ,","place":["United States"]},{"name":"Center for Translational Research in Neurodegeneration, University of Florida , 1275 Center Drive, Gainesville, FL 32610 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anjana","family":"Tiwari","sequence":"additional","affiliation":[{"name":"Neuroscience Research Program and Department of Neurology, Houston Methodist Hospital and Weill Cornell Medicine , 6560 Fannin Street, Houston, TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Hashem","sequence":"additional","affiliation":[{"name":"Neuroscience Research Program and Department of Neurology, Houston Methodist Hospital and Weill Cornell Medicine , 6560 Fannin Street, Houston, TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linwei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, China-Japan Friendship Hospital , Yinghua East Street 2, Chaoyang, Beijing 100029 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desmond","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Neurology , College of Medicine, The McKnight Brain Institute, , 1149 South Newell Drive, Gainesville, FL 32610 ,","place":["United States"]},{"name":"University of Florida , College of Medicine, The McKnight Brain Institute, , 1149 South Newell Drive, Gainesville, FL 32610 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin","family":"Vincent","sequence":"additional","affiliation":[{"name":"Neuroscience Research Program and Department of Neurology, Houston Methodist Hospital and Weill Cornell Medicine , 6560 Fannin Street, Houston, TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria J","family":"Arredondo","sequence":"additional","affiliation":[{"name":"Neuroscience Research Program and Department of Neurology, Houston Methodist Hospital and Weill Cornell Medicine , 6560 Fannin Street, Houston, TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristy L","family":"Johnson","sequence":"additional","affiliation":[{"name":"Genes and Human Disease Research Program, Oklahoma Medical Research Foundation , 825 N.E. 13th Street, Oklahoma City, Oklahoma 73104 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shi Rui","family":"Gan","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology , First Affiliated Hospital, , 20 Cha Zhong Lu, Tailing District, Fuzhou 362000 ,","place":["China"]},{"name":"Fujian Medical University , First Affiliated Hospital, , 20 Cha Zhong Lu, Tailing District, Fuzhou 362000 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichiro","family":"Yabe","sequence":"additional","affiliation":[{"name":"Department of Neurology , Faculty of Medicine and Graduate School of Medicine, , 7 Chome Kita 15 Jonishi, Kita Ward, Sapporo 060-8638 ,","place":["Japan"]},{"name":"Hokkaido University , Faculty of Medicine and Graduate School of Medicine, , 7 Chome Kita 15 Jonishi, Kita Ward, Sapporo 060-8638 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurits","family":"Skov","sequence":"additional","affiliation":[{"name":"Bioinformatics Research Centre, Aarhus University , Universitetsbyen 81, 3., Building 1872, Aarhus C. DK-8000 ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid","family":"Rasmussen","sequence":"additional","affiliation":[{"name":"Genes and Human Disease Research Program, Oklahoma Medical Research Foundation , 825 N.E. 13th Street, Oklahoma City, Oklahoma 73104 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuo","family":"Ashizawa","sequence":"additional","affiliation":[{"name":"Department of Neurology , College of Medicine, The McKnight Brain Institute, , 1149 South Newell Drive, Gainesville, FL 32610 ,","place":["United States"]},{"name":"University of Florida , College of Medicine, The McKnight Brain Institute, , 1149 South Newell Drive, Gainesville, FL 32610 ,","place":["United States"]},{"name":"Neuroscience Research Program and Department of Neurology, Houston Methodist Hospital and Weill Cornell Medicine , 6560 Fannin Street, Houston, TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,6,4]]},"reference":[{"key":"2025052304465485700_ref1","doi-asserted-by":"crossref","first-page":"936869","DOI":"10.3389\/fgene.2022.936869","article-title":"The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10","volume":"13","author":"Kurosaki","year":"2022","journal-title":"Front Genet"},{"key":"2025052304465485700_ref2","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1038\/79911","article-title":"Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10","volume":"26","author":"Matsuura","year":"2000","journal-title":"Nat Genet"},{"key":"2025052304465485700_ref3","volume-title":"Gene Reviews","author":"Matsuura","year":"1993"},{"key":"2025052304465485700_ref4","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1086\/498654","article-title":"Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?","volume":"78","author":"Matsuura","year":"2006","journal-title":"Am J Hum Genet"},{"key":"2025052304465485700_ref5","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1007\/s12017-017-8464-8","article-title":"Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation","volume":"19","author":"Bampi","year":"2017","journal-title":"NeuroMolecular Med"},{"key":"2025052304465485700_ref6","doi-asserted-by":"crossref","first-page":"e81342","DOI":"10.1371\/journal.pone.0081342","article-title":"Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry","volume":"8","author":"Bushara","year":"2013","journal-title":"PLoS One"},{"key":"2025052304465485700_ref7","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1007\/s12311-020-01109-7","article-title":"Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean","volume":"19","author":"Rodr\u00edguez-Labrada","year":"2020","journal-title":"Cerebellum"},{"key":"2025052304465485700_ref8","doi-asserted-by":"crossref","first-page":"e26","DOI":"10.1212\/NXG.0000000000000026","article-title":"Spinocerebellar ataxia type 10 in Chinese Han","volume":"1","author":"Wang","year":"2015","journal-title":"Neurol Genet"},{"key":"2025052304465485700_ref9","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1007\/s12311-022-01405-4","article-title":"Spinocerebellar Ataxia Type 10 with Atypical Clinical Manifestation in Han Chinese","volume":"22","author":"Mao","year":"2023","journal-title":"Cerebellum"},{"key":"2025052304465485700_ref10","doi-asserted-by":"crossref","first-page":"e0177955","DOI":"10.1371\/journal.pone.0177955","article-title":"First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China","volume":"12","author":"Naito","year":"2017","journal-title":"PLoS One"},{"key":"2025052304465485700_ref11","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1038\/nature11258","article-title":"Reconstructing Native American population history","volume":"488","author":"Reich","year":"2012","journal-title":"Nature"},{"key":"2025052304465485700_ref12","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/j.cub.2022.11.062","article-title":"Middle Holocene Siberian genomes reveal highly connected gene pools throughout North Asia","volume":"33","author":"Wang","year":"2023","journal-title":"Curr Biol"},{"key":"2025052304465485700_ref13","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1038\/526052a","article-title":"Human genomics: The end of the start for population sequencing","volume":"526","author":"Birney","year":"2015","journal-title":"Nature"},{"key":"2025052304465485700_ref14","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1007\/s00415-014-7394-8","article-title":"Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease","volume":"261","author":"Leonardi","year":"2014","journal-title":"J Neurol"},{"key":"2025052304465485700_ref15","doi-asserted-by":"crossref","first-page":"e1007641","DOI":"10.1371\/journal.pgen.1007641","article-title":"Detecting archaic introgression using an unadmixed outgroup","volume":"14","author":"Skov","year":"2018","journal-title":"PLoS Genet"},{"key":"2025052304465485700_ref16","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1007\/s12311-019-01098-2","article-title":"Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance","volume":"19","author":"Cornejo-Olivas","year":"2020","journal-title":"Cerebellum"},{"key":"2025052304465485700_ref17","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/s41531-017-0029-x","article-title":"Parkinson\u2019s disease associated with pure ATXN10 repeat expansion","volume":"3","author":"Sch\u00fcle","year":"2017","journal-title":"NPJ Parkinsons Dis"},{"key":"2025052304465485700_ref18","doi-asserted-by":"crossref","first-page":"e0228789","DOI":"10.1371\/journal.pone.0228789","article-title":"Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10","volume":"15","author":"Hashem","year":"2020","journal-title":"PLoS One"},{"key":"2025052304465485700_ref19","doi-asserted-by":"crossref","first-page":"1272","DOI":"10.1038\/ejhg.2013.32","article-title":"Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability","volume":"21","author":"McFarland","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"2025052304465485700_ref20","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/s10048-013-0385-6","article-title":"Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures","volume":"15","author":"McFarland","year":"2014","journal-title":"Neurogenetics"},{"key":"2025052304465485700_ref21","first-page":"100137","article-title":"ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10","volume":"3","author":"Morato Torres","year":"2022","journal-title":"HGG Adv"},{"key":"2025052304465485700_ref22","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.3390\/cells11091567","article-title":"Mechanistic and Therapeutic Insights into Ataxic Disorders with Pentanucleotide Expansions","volume":"11","author":"Zhang","year":"2022","journal-title":"Cells"},{"key":"2025052304465485700_ref23","doi-asserted-by":"crossref","first-page":"e3000586","DOI":"10.1371\/journal.pbio.3000586","article-title":"Dating genomic variants and shared ancestry in population-scale sequencing data","volume":"18","author":"Albers","year":"2020","journal-title":"PLoS Biol"},{"key":"2025052304465485700_ref24","doi-asserted-by":"crossref","first-page":"evab115","DOI":"10.1093\/gbe\/evab115","article-title":"Our Tangled Family Tree: New Genomic Methods Offer Insight into the Legacy of Archaic Admixture","volume":"13","author":"Ahlquist","year":"2021","journal-title":"Genome Biol Evol"},{"key":"2025052304465485700_ref25","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.omtm.2022.03.001","article-title":"Haplotype-specific insertion-deletion variations for allele-specific targeting in Huntington's disease","volume":"25","author":"Shin","year":"2022","journal-title":"Mol Ther Methods Clin Dev"},{"key":"2025052304465485700_ref26","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1002\/mgg3.110","article-title":"Genetic variability of microRNA regulome in human","volume":"3","author":"Obsteter","year":"2015","journal-title":"Mol Genet Genomic Med"},{"key":"2025052304465485700_ref27","doi-asserted-by":"crossref","first-page":"3406","DOI":"10.1093\/nar\/gkg595","article-title":"Mfold web server for nucleic acid folding and hybridization prediction","volume":"31","author":"Zuker","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"2025052304465485700_ref28","doi-asserted-by":"crossref","first-page":"6443","DOI":"10.1016\/j.csbj.2022.11.036","article-title":"Consequences of genetic variants in miRNA genes","volume":"20","author":"Machowska","year":"2022","journal-title":"Comput Struct Biotechnol J"},{"key":"2025052304465485700_ref29","volume-title":"National Center for Biotechnology Information","author":"Phan","year":"2020"},{"key":"2025052304465485700_ref30","doi-asserted-by":"crossref","first-page":"D941","DOI":"10.1093\/nar\/gkz836","article-title":"The International Genome Sample Resource (IGSR) collection of open human genomic variation resources","volume":"48","author":"Fairley","year":"2020","journal-title":"Nucleic Acids Res"},{"key":"2025052304465485700_ref31","doi-asserted-by":"crossref","first-page":"D536","DOI":"10.1093\/nar\/gkaa1034","article-title":"jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese population","volume":"49","author":"Tadaka","year":"2021","journal-title":"Nucleic Acids Res"},{"key":"2025052304465485700_ref32","doi-asserted-by":"crossref","first-page":"1862","DOI":"10.1038\/s12276-022-00871-4","article-title":"A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population","volume":"54","author":"Lee","year":"2022","journal-title":"Exp Mol Med"},{"key":"2025052304465485700_ref33","author":"All of Us Research Hub","year":"2023"},{"key":"2025052304465485700_ref34","volume-title":"bioRxiv","author":"Chen"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/33\/18\/1567\/59000910\/ddae092.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/33\/18\/1567\/59000910\/ddae092.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,23]],"date-time":"2025-05-23T08:47:10Z","timestamp":1747990030000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/33\/18\/1567\/7687426"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,4]]},"references-count":34,"journal-issue":{"issue":"18","published-online":{"date-parts":[[2024,6,4]]},"published-print":{"date-parts":[[2024,9,3]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddae092","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,9,15]]},"published":{"date-parts":[[2024,6,4]]}}}