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. 2021 Aug 26;140(10):1459–1469. doi: 10.1007/s00439-021-02344-6

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© The Author(s) 2021

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Fig. 3 — Genes and enhancers at the 7q36.3 region. a The A and D fragments have 15 and 9.8 kb length, respectively, and contain neither genes nor enhancers; the same is observed for the E fragment. The B and C fragments, sized 449 and 207 kb, respectively, contain several enhancers and two of them, MACS1 (red ellipse) and ZRS (blue ellipse), regulate SHH in a spatio-temporal manner. The other known enhancers are represented by orange ellipses. b Genome sequencing breakpoint analysis disclosed two possible linear sequence scenarios. Three interactions are observed by manual inspection of split-reads: D–A (1), C–B (2) and B–E′ (3)