A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus-Reference-Cited by-同舟云学术

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

Published:2024-06-27 Issue:7 Volume:56 Page:1366-1370
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Pellerin David,Del Gobbo Giulia F.,Couse Madeline,Dolzhenko Egor^ORCID,Nageshwaran Sathiji K.^ORCID,Cheung Warren A.^ORCID,Xu Isaac R. L.,Dicaire Marie-Josée^ORCID,Spurdens Guinevere,Matos-Rodrigues Gabriel,Stevanovski Igor^ORCID,Scriba Carolin K.^ORCID,Rebelo Adriana^ORCID,Roth Virginie,Wandzel Marion,Bonnet Céline^ORCID,Ashton Catherine^ORCID,Agarwal Aman^ORCID,Peter Cyril^ORCID,Hasson Dan,Tsankova Nadejda M.,Dewar Ken,Lamont Phillipa J.,Laing Nigel G.^ORCID,Renaud Mathilde,Houlden Henry^ORCID,Synofzik Matthis^ORCID,Usdin Karen,Nussenzweig Andre,Napierala Marek,Chen Zhao,Jiang Hong,Deveson Ira W.^ORCID,Ravenscroft Gianina,Akbarian Schahram^ORCID,Eberle Michael A.,Boycott Kym M.,Pastinen Tomi^ORCID, ,Bateman Emily,Berngruber Chelsea,Cunial Fabio,Davis Colleen P.,Dinh Huyen,Doddapaneni Harsha,Doheny Kim,Dugan-Perez Shannon,Dutka Tara,Eichler Evan E.,Empey Philip,Fazal Sarah,Frazar Chris,Garimella Kiran,Gearhart Jessica,Gibbs Richard,Grimwood Jane,Gupta Namrata,Hall Salina K.,Han Yi,Harvey William T.,Hosea Jess,Hsieh PingHsun,Hu Jianhong,Huang Yongqing,Hwang James,Izydorczyk Michal,Jeong Hyeonsoo,Khan Ziad,Kirkpatrick Sarah,Kokosinski Michelle,Kovaka Sam,Kurtas Edibe Nehir,Lakatos Rebecca,LaPlante Emily,Lee Samuel K.,Lennon Niall,Levy Shawn,Li Qiuhui,Lichtenstein Lee,Logsdon Glennis A.,Lord Chris,Lorig-Roach Ryan,Madmoud Medhat,Maheshwari Anant,Marosy Beth,Mehta Heer,Metcalf Ginger,Mohr David,Montano Carolina,Morina Luke,Mostovoy Yulia,Musick Anjene,Muzny Donna,Neph Shane,Paschall Justin,Patterson Karynne,Pionzio Arianna,Porubsky David,Prasad Nripesh,Rozanski Allison N.,Sanchis-Juan Alba,Schatz Michael C.,Schwartz Sophie,Scott Alan,Sedeno-Cortes Adriana,Sedlazeck Fritz,Shaffer Tristan,Shen Hua,Shifaw Beri,Smith Joshua D.,Soisangwan Natthapon,Stergachis Andrew,Su Hang,Talkowski Michael,Timp Winston,Vee Vanesa,Wan Evie,Wang Yuanyuan,Weissenberger George,Wertz Julie,Wheeler Marsha,Whelan Christopher,Yoo DongAhn,Zaheri Shadi,Zheng Xinchang,Zhu Yiming,Zilka Michelle,Brais Bernard^ORCID,Zuchner Stephan^ORCID,Danzi Matt C.^ORCID

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41588-024-01808-5.pdf

Reference25 articles.

1. Pellerin, D. et al. Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia. N. Engl. J. Med. 388, 128–141 (2023).

2. Rafehi, H. et al. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14. Am. J. Hum. Genet. 110, 1018 (2023).

3. Méreaux, J. L. et al. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. EBioMedicine 99, 104931 (2024).

4. Dolzhenko, E. et al. Characterization and visualization of tandem repeats at genome scale. Nat. Biotechnol. https://doi.org/10.1038/s41587-023-02057-3 (2024).

5. Sakamoto, N. et al. GGA*TCC-interrupted triplets in long GAA*TTC repeats inhibit the formation of triplex and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities. J. Biol. Chem. 276, 27178–27187 (2001).

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