Figure 4 | Scientific Reports

Figure 4

From: CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs

Figure 4

Whole-genome and Sanger sequencing of the disease variant. (A) Screenshot of the whole-genome sequencing (WGS) reads of an obligate carrier (parent) at the top and a clinically affected PWD at the bottom. Reads are mapped against the canine reference sequence (CanFam3.1). Note the 1-bp insertion in CFA20:g.33,717,704_33,717,705insT (CanFam3.1) (arrowhead). (B) Sanger sequencing confirmed the presence of the homozygous 1 bp insertion in the case. Electropherograms of a control PWD (wild type), one of the parents of the affected dogs (carrier), and an affected dog (case) are shown. The position of the variant is indicated with an arrowhead. Sanger sequences were produced with a primer in reverse complementary orientation to the genome reference sequence. Therefore, the sequence of the carrier has overlapping signals on the left side of the heterozygous indel.

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