作者
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Warren A Cheung, Isaac RL 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, Bernard Brais, Stephan Zuchner, Matt C Danzi
发表日期
2024/7
期刊
Nature genetics
卷号
56
期号
7
页码范围
1366-1370
出版商
Nature Publishing Group US
简介
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.
学术搜索中的文章
D Pellerin, GF Del Gobbo, M Couse, E Dolzhenko… - Nature genetics, 2024
