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

David Pellerin, Giulia Del Gobbo,Madeline Couse,Egor Dolzhenko,Marie-Josée Dicaire,Adriana Rebelo, Virginie Roth, Marion Wandzel,Céline Bonnet,Catherine Ashton,Phillipa J Lamont,Nigel G Laing,Mathilde Renaud, Gianina Ravenscroft,Henry Houlden,Matthis Synofzik,Michael A Eberle,Kym M Boycott, Tomi Pastinen, ,Bernard Brais,Stephan Zuchner,Matt C Danzi

bioRxiv : the preprint server for biology（2023）

引用 0|浏览34

暂无评分

摘要

The factors driving initiation of pathological expansion of tandem repeats remain largely unknown. Here, we assessed the FGF14 -SCA27B (GAA)•(TTC) repeat locus in 2,530 individuals by long-read and Sanger sequencing and identified a 5'-flanking 17-bp deletion-insertion in 70.34% of alleles (3,463/4,923). This common sequence variation was present nearly exclusively on alleles with fewer than 30 GAA-pure repeats and was associated with enhanced meiotic stability of the repeat locus.

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