Fig. 2. Disruption of EDARADD results in the scaleless corn snake phenotype.
(A) Proportion (y axis) of quality-filtered SNPs/MNPs co-segregating with the scaleless locus in the four genome libraries, compared to informative quality-filtered parental variants (homozygous in the scl/scl female and heterozygous in the scl/+ male). Scaffolds (alternatively colored black and red) are ordered from longest to shortest. The super-scaffold containing the scaleless interval is indicated. (B) Proportion (y axis) of quality-filtered SNPs/MNPs co-segregating with the scaleless locus on Super-scaffold 423. Dark green dots correspond to the 4.3-Mb region with the highest proportion of co-segregating variants. EDARADD is in this interval. In (A) and (B), proportions are calculated for scaffolds >1 Mb, with a 1-Mb sliding window and a step of 100 kb. (C) Impact of the 2-nt deletion (red shade on exon 6) on the structure of the EDARADD transcript (red line, STOP codon) and protein (red dashed rectangle, truncated part). The exons are not drawn in proportion. (D) Sequence information on the CRISPR-Cas9–induced EDARADD mutations. Parents and mutated offspring are indicated in plain and bold fonts, respectively. The ratio in parenthesis for individuals 2, 3, and 4 corresponds to the number of clones with this sequence. Blue shading, gRNA sequence; yellow shading, PAM sequence; orange shading, original scaleless 2-nt deletion; bases indicated in red form STOP codons.