A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Nat Genet
; 56(7): 1366-1370, 2024 Jul.
Article
in En
| MEDLINE
| ID: mdl-38937606
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Alleles
/
Fibroblast Growth Factors
Limits:
Humans
Language:
En
Journal:
Nat Genet
Journal subject:
GENETICA MEDICA
Year:
2024
Document type:
Article
Affiliation country:
Canada