Back to Search
Start Over
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
- Source :
-
Nature genetics [Nat Genet] 2024 Jul; Vol. 56 (7), pp. 1366-1370. Date of Electronic Publication: 2024 Jun 27. - Publication Year :
- 2024
-
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.<br /> (© 2024. The Author(s), under exclusive licence to Springer Nature America, Inc.)
Details
- Language :
- English
- ISSN :
- 1546-1718
- Volume :
- 56
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 38937606
- Full Text :
- https://doi.org/10.1038/s41588-024-01808-5