Fig. 5: DNA FISH showing the SHH promoter interaction with the acheiropodia-associated region. | Nature Communications

Fig. 5: DNA FISH showing the SHH promoter interaction with the acheiropodia-associated region.

From: Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia

Fig. 5

a Schematic of the LMBR1-SHH locus showing the ZRS and the acheiropodia-associated deleted region via orange and blue vertical lines respectively. CTCF orientations are shown as red triangles and the locations to which the DNA FISH probes hybridize to are depicted by light blue bars. b Images of representative nuclei from DNA FISH analysis of parental and proband lymphoblastoid cells showing FISH signals for SHH, LSC2, LSC3-5, and 12 kb probes. Scale bars: 5 µm. c Violin plots showing the distribution of interprobe distances (µm) between SHH – LSC1, SHH – LSC2, and SHH – Deletion. The wild-type allele was distinguished from the mutant allele in the parental cell line using the 12 kb probe. SHH – deletion is measured from SHH to 12 kb probe on the wild-type allele and from SHH to LSC3-5 probe on the mutant allele. The statistical significance between datasets was examined by a two-sided Mann–Whitney U-test, ** = 0.004537 and **** = 2.083×10−11 (n = 75–150 alleles).

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