A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
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期刊论文
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发表日期：
2024年6月27日
- David Pellerin,
- Giulia F. Del Gobbo,
- Madeline Couse,
- Egor Dolzhenko,
- Sathiji K. Nageshwaran,
- Warren A. Cheung,
- Isaac R. L. Xu,
- Marie-Josée Dicaire,
- Guinevere Spurdens,
- Gabriel Matos-Rodrigues,
- Igor Stevanovski,
- Carolin K. Scriba,
- Adriana Rebelo,
- Virginie Roth,
- Marion Wandzel,
- Céline Bonnet,
- Catherine Ashton,
- Aman Agarwal,
- Cyril Peter,
- Dan Hasson,
- Nadejda M. Tsankova,
- Ken Dewar,
- Phillipa J. Lamont,
- Nigel G. Laing,
- Mathilde Renaud,
- Henry Houlden,
- Matthis Synofzik,
- Karen Usdin,
- Andre Nussenzweig,
- Marek Napierala,
- Zhao Chen,
- Hong Jiang,
- Ira W. Deveson,
- Gianina Ravenscroft,
- Schahram Akbarian,
- Michael A. Eberle,
- Kym M. Boycott,
- Tomi Pastinen,
- Emily Bateman,
- Chelsea Berngruber,
- Fabio Cunial,
- Colleen P. Davis,
- Huyen Dinh,
- Harsha Doddapaneni,
- Kim Doheny,
- Shannon Dugan-Perez,
- Tara Dutka,
- Evan E. Eichler,
- Philip Empey,
- Sarah Fazal,
- Chris Frazar,
- Kiran Garimella,
- Jessica Gearhart,
- Richard Gibbs,
- Jane Grimwood,
- Namrata Gupta,
- Salina K. Hall,
- Yi Han,
- William T. Harvey,
- Jess Hosea,
- PingHsun Hsieh,
- Jianhong Hu,
- Yongqing Huang,
- James Hwang,
- Michal Izydorczyk,
- Hyeonsoo Jeong,
- Ziad Khan,
- Sarah Kirkpatrick,
- Michelle Kokosinski,
- Sam Kovaka,
- Edibe Nehir Kurtas,
- Rebecca Lakatos,
- Emily LaPlante,
- Samuel K. Lee,
- Niall Lennon,
- Shawn Levy,
- Qiuhui Li,
- Lee Lichtenstein,
- Glennis A. Logsdon,
- Chris Lord,
- Ryan Lorig-Roach,
- Medhat Madmoud,
- Anant Maheshwari,
- Beth Marosy,
- Heer Mehta,
- Ginger Metcalf,
- David Mohr,
- Carolina Montano,
- Luke Morina,
- Yulia Mostovoy,
- Anjene Musick,
- Donna Muzny,
- Shane Neph,
- Justin Paschall,
- Karynne Patterson,
- Arianna Pionzio,
- David Porubsky,
- Nripesh Prasad,
- Allison N. Rozanski,
- Alba Sanchis-Juan,
- Michael C. Schatz,
- Sophie Schwartz,
- Alan Scott,
- Adriana Sedeno-Cortes,
- Fritz Sedlazeck,
- Tristan Shaffer,
- Hua Shen,
- Beri Shifaw,
- Joshua D. Smith,
- Natthapon Soisangwan,
- Andrew Stergachis,
- Hang Su,
- Michael Talkowski,
- Winston Timp,
- Vanesa Vee,
- Evie Wan,
- Yuanyuan Wang,
- George Weissenberger,
- Julie Wertz,
- Marsha Wheeler,
- Christopher Whelan,
- DongAhn Yoo,
- Shadi Zaheri,
- Xinchang Zheng,
- Yiming Zhu,
- Michelle Zilka,
- Bernard Brais,
- Stephan Zuchner,
- Matt C. Danzi
摘要
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.