Pellerin, David;
Del Gobbo, Giulia F;
Couse, Madeline;
Dolzhenko, Egor;
Nageshwaran, Sathiji K;
Cheung, Warren A;
Xu, Isaac RL;
... Danzi, Matt C; + view all
(2024)
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Nature Genetics
, 56
(7)
pp. 1366-1370.
10.1038/s41588-024-01808-5.
Preview |
Text
nihms-2023702.pdf - Accepted Version Download (1MB) | Preview |
Abstract
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.
Archive Staff Only
 |
View Item |
