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. 2022 Nov 8;20:517. doi: 10.1186/s12967-022-03743-7

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© The Author(s) 2022

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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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