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

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, All of Us Research Program Long Read Working Group,Bernard Brais,Stephan Zuchner,Matt C Danzi

Nature genetics（2024）

引用 0|浏览0

暂无评分

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.

查看译文

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要