Fig. 1

Determination of numbers of D4Z4 RUs in patients with facioscapulohumeral muscular dystrophy by Nanopore sequencing. A Schematic showing the D4Z4 repeat regions at the human chromosome 4qA, 4qB, and 10q loci. D4Z4 RUs are represented by triangles. The XapI and BlnI restriction enzyme sites are unique to chromosomes 4 and 10, respectively. The p13E-11, A-type haplotype, and B-type haplotype regions are indicated in green, blue, and pink, respectively. Green and blue arrows indicate crRNA cleavage sites (CR1/CR2/CR3/CR4). B The CR2 site in p13E-11 and CR3 site in the A-haplotype on the 4qA and 10q allele are shown by green and blue arrows, respectively. The 4qA polyadenylation signal is indicated in red. Sequences in the rectangle were used to distinguish reads from the 4qA and 10q loci. C Fragments carrying a single D4Z4 RU produced by CR2/CR3 or CR1/CR4 cleavage were 5.4 and 6.0 kb, respectively. D The length of identified reads and numbers of D4Z4 RUs are plotted. Red and black dots indicate reads derived from the 4qA and 10q loci, respectively