Fig. 5: Effect of 5’ flanking regions on repeat instability.
From: Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
A Schematic representation of the different parts composing FGF14 repeat expansions. An invariable CTTTCT motif is usually followed by a variable 5’ region. A pre-repeat can be present in some individuals before the repeats. Some alleles are interrupted by one or several other motifs called interruptions. B Median number of triplets for each allele depending on the flanking region sequence. GTTAGTCATAGTACCCC is present in small alleles ( ≤ 21 repeats) only. Other sequences show higher number of repeats, suggesting higher instability of these associations. C Median number of triplets for each allele depending on the pre-repeat motif. Graphs displayed in (B and C) include both patients with ataxia and controls compared by Mann-Whitney U test, two-sided, followed by Holm correction for multiple testing. Graphs presenting data for patients with ataxia and controls separately appear in Supplementary Fig. 7. Box plot elements are defined as follows: center line: median; box limits: upper and lower quartiles; whiskers: 1.5× interquartile range; points: outliers. Blue: AAG; orange: AAGGAG main motif.
