A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus
D Pellerin, GD Gobbo, M Couse, E Dolzhenko… - Biorxiv, 2023 - biorxiv.org
D Pellerin, GD Gobbo, M Couse, E Dolzhenko, MJ Dicaire, A Rebelo, V Roth, M Wandzel…
Biorxiv, 2023•biorxiv.orgThe 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.
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.
Abstract
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.
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