{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Pellerin D"],"funding":["Ontario Genomics Institute (OGI)","U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI)","U.S. Department of Health & Human Services | NIH | National Center for Advancing Translational Sciences (NCATS)","NCATS NIH HHS","NIDA NIH HHS","U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS)","U.S. Department of Health & Human Services | National Institutes of Health (NIH)","Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada)","Deutsche Forschungsgemeinschaft (German Research Foundation)","U.S. Department of Health & Human Services | NIH | National Institute on Drug Abuse (NIDA)","U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI)","NHGRI NIH HHS","NCI NIH HHS","NINDS NIH HHS","Wellcome Trust","NIH HHS"],"pagination":["1366-1370"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11440897"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["56(7)"],"pubmed_abstract":["The factors driving or preventing pathological expansion of tandem repeats remain largely unknown. Here, we assessed the FGF14 (GAA)·(TTC) repeat locus in 2,530 individuals by long-read and Sanger sequencing and identified a common 5'-flanking variant in 70.34% of alleles analyzed (3,463/4,923) that represents the phylogenetically ancestral allele and is present on all major haplotypes. This common sequence variation is present nearly exclusively on nonpathogenic alleles with fewer than 30 GAA-pure triplets and is associated with enhanced stability of the repeat locus upon intergenerational transmission and increased Fiber-seq chromatin accessibility."],"journal":["Nature genetics"],"pubmed_title":["A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus."],"pmcid":["PMC11440897"],"funding_grant_id":["R01NS106229","S10 OD030463","2R01NS072248-11A1","S10 OD026880","DP1 DA056018","UL1 TR004419","189963","RF1DA048810","S10OD030463","R01 NS072248","RF1 DA048810","P30 CA196521","S10OD026880","DP1DA056018","R01 NS106229","OGI-147","GP1-155867","R21HG013397","HHSN261201500003","UL1TR004419","R21 HG013397","P30CA196521","441409627"],"pubmed_authors":["Del Gobbo GF","Metcalf G","Patterson K","All of Us Research Program Long Read Working Group","Kovaka S","Morina L","Laing NG","Cunial F","Akbarian S","Shen H","Su H","Dutka T","Logsdon GA","Lorig-Roach R","Hall SK","Usdin K","Wan E","Deveson IW","Jeong H","Sedlazeck F","Zheng X","Dewar K","Scriba CK","Shaffer T","Davis CP","Pellerin D","Muzny D","Pastinen T","Hu J","Nussenzweig A","Weissenberger G","Mostovoy Y","Levy S","Frazar C","Bateman E","Fazal S","Soisangwan N","Lennon N","Hsieh P","Lakatos R","Zhu Y","Rebelo A","Han Y","Schatz MC","Matos-Rodrigues G","Dugan-Perez S","Brais B","Berngruber C","Wheeler M","Hosea J","Grimwood J","Neph S","Smith JD","Wertz J","Wandzel M","Lee SK","Dolzhenko E","Xu IRL","Ravenscroft G","Izydorczyk M","Kokosinski M","Kurtas EN","Huang Y","Gibbs R","Renaud M","Timp W","Stevanovski I","Musick A","Rozanski AN","Dinh H","Kirkpatrick S","Ashton C","Prasad N","Mehta H","Talkowski M","Zaheri S","Spurdens G","Maheshwari A","Eberle MA","Agarwal A","Chen Z","Paschall J","Synofzik M","Gupta N","Wang Y","Napierala M","Cheung WA","Houlden H","Stergachis A","Pionzio A","Marosy B","Lamont PJ","Li Q","Bonnet C","Hasson D","Shifaw B","LaPlante E","Sanchis-Juan A","Roth V","Couse M","Zuchner S","Sedeno-Cortes A","Doheny K","Zilka M","Mohr D","Khan Z","Jiang H","Scott A","Vee V","Yoo D","Peter C","Montano C","Schwartz S","Doddapaneni H","Dicaire MJ","Lichtenstein L","Tsankova NM","Empey P","Porubsky D","Madmoud M","Hwang J","Gearhart J","Whelan C","Harvey WT","Eichler EE","Garimella K","Lord C","Nageshwaran SK","Boycott KM","Danzi MC"],"additional_accession":[]},"is_claimable":false,"name":"A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.","description":"The factors driving or preventing pathological expansion of tandem repeats remain largely unknown. Here, we assessed the FGF14 (GAA)·(TTC) repeat locus in 2,530 individuals by long-read and Sanger sequencing and identified a common 5'-flanking variant in 70.34% of alleles analyzed (3,463/4,923) that represents the phylogenetically ancestral allele and is present on all major haplotypes. This common sequence variation is present nearly exclusively on nonpathogenic alleles with fewer than 30 GAA-pure triplets and is associated with enhanced stability of the repeat locus upon intergenerational transmission and increased Fiber-seq chromatin accessibility.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jul","modification":"2026-06-01T05:59:09.965Z","creation":"2026-04-08T09:48:53.496Z"},"accession":"S-EPMC11440897","cross_references":{"pubmed":["38937606"],"doi":["10.1038/s41588-024-01808-5"]}}