Motif composition, but not length, explains RNF213 expression changes. (A) VNTR allele diversity of the RNF213 promoter repeat (Chr 17: 80,260,506–80,260,846). The VNTR lengths and counts for the likely causal motif GCGGGGCCGGCGGCGGCGGCGG, corresponding to the red repeat unit in B, in HGSVC and HPRC assemblies are shown (matplotlib alpha = 0.2). (B) Repeat expansion of the RNF213 VNTR from diverse repeat units. VNTR haplotypes from all assemblies were annotated using vamos (Ren et al. 2022). Different repeat units are illustrated by different colors; the repeat unit containing a ZNF93 binding site is colored dark orange. Only unique annotations were shown, with the frequency of each entry shown on top if greater than one. (C) Multiple sequence alignment of the four repeat units shown in B. Alignments were generated using MUSCLE (Edgar 2004) and visualized with Jalview (Waterhouse et al. 2009).
