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A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Pellerin, David; Del Gobbo, Giulia F; Couse, Madeline; Dolzhenko, Egor; Nageshwaran, Sathiji K; Cheung, Warren A; Xu, Isaac R L; Dicaire, Marie-Josée; Spurdens, Guinevere; Matos-Rodrigues, Gabriel; Stevanovski, Igor; Scriba, Carolin K; Rebelo, Adriana; Roth, Virginie; Wandzel, Marion; Bonnet, Céline; Ashton, Catherine; Agarwal, Aman; Peter, Cyril; Hasson, Dan; Tsankova, Nadejda M; Dewar, Ken; Lamont, Phillipa J; Laing, Nigel G; Renaud, Mathilde; Houlden, Henry; Synofzik, Matthis; Usdin, Karen; Nussenzweig, Andre; Napierala, Marek; Chen, Zhao; Jiang, Hong; Deveson, Ira W; Ravenscroft, Gianina; Akbarian, Schahram; Eberle, Michael A; Boycott, Kym M; Pastinen, Tomi; Brais, Bernard; Zuchner, Stephan; Danzi, Matt C.
Afiliação
  • Pellerin D; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.
  • Del Gobbo GF; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
  • Couse M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Dolzhenko E; Centre for Computational Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Nageshwaran SK; Pacific Biosciences, Menlo Park, CA, USA.
  • Cheung WA; Department of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Xu IRL; Neurogenetics Program, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
  • Dicaire MJ; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.
  • Spurdens G; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Matos-Rodrigues G; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.
  • Stevanovski I; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Scriba CK; Laboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD, USA.
  • Rebelo A; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Roth V; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, New South Wales, Australia.
  • Wandzel M; Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.
  • Bonnet C; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Ashton C; Laboratoire de Génétique, CHRU de Nancy, Nancy, France.
  • Agarwal A; Laboratoire de Génétique, CHRU de Nancy, Nancy, France.
  • Peter C; Laboratoire de Génétique, CHRU de Nancy, Nancy, France.
  • Hasson D; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France.
  • Tsankova NM; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.
  • Dewar K; Tisch Cancer Institute Bioinformatics for Next Generation Sequencing (BiNGS) Core, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Lamont PJ; Department of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Laing NG; Tisch Cancer Institute Bioinformatics for Next Generation Sequencing (BiNGS) Core, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Renaud M; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Houlden H; Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Synofzik M; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Usdin K; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Nussenzweig A; Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia.
  • Napierala M; Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.
  • Chen Z; Laboratoire de Génétique, CHRU de Nancy, Nancy, France.
  • Jiang H; Service de Neurologie, CHRU de Nancy, Nancy, France.
  • Deveson IW; Service de Génétique Clinique, CHRU de Nancy, Nancy, France.
  • Ravenscroft G; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
  • Akbarian S; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
  • Eberle MA; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Boycott KM; Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.
  • Pastinen T; Laboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD, USA.
  • Brais B; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Zuchner S; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Danzi MC; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Nat Genet ; 56(7): 1366-1370, 2024 Jul.
Article em En | MEDLINE | ID: mdl-38937606
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Alelos / Fatores de Crescimento de Fibroblastos Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Alelos / Fatores de Crescimento de Fibroblastos Idioma: En Ano de publicação: 2024 Tipo de documento: Article