Fig. 6: Human and mouse genomic comparisons and phenotype of mice where the orthologous region was deleted.

a Comparison of the LMBR1-SHH locus between human and mice. CTCF site deletions analyzed by Paliou et al.²¹ are marked by purple lines and those generated by ^#, Williamson et al.⁴ are denoted by yellow lines or gray rectangle, and marked by *. CTCF motif orientation is shown via red triangles. The acheiropodia-associated deletion and its mouse orthologous sequence are depicted by a blue rectangle. Mouse limb CTCF ChIP-seq data from ENCODE³⁷, Andrey et al.³⁸, Paliou et al.²¹ and human CTCF ChIP-seq data from this study (WT = wild type; Mut=proband) are shown as black genomic tracks below the locus. The conservation track is adopted from the Ensembl Genome Browser⁷¹ with green lines indicating conserved sequences between humans and mice. b Shh gene expression levels dissected from E11.5 mouse autopods from wild type (WT) and knockout (KO) mice as determined by qRT-PCR. Each value represents the ratio of Shh gene expression to that of β-Actin, and values are mean ± standard deviation. The expression value of WT group was arbitrarily set at 1.0. Each dot represents one embryo and statistical differences were determined using a two-sided unpaired t test (P = 0.7796, N.S., not significant). Source data are provided as a Source Data file. c Whole-mount in situ hybridization for Shh of wild type (WT) and knockout (KO) E11.5 mouse embryos. Forelimbs (FL) and hindlimbs (HL) were dissected and shown in the lower panel. d Wild type (WT) and knockout (KO) E18.5 limb skeletal staining using alizarin red/alcian blue.