Table 1.
Published mutations and their phenotypes in canine and human ADAMTS17.
Fig 1.
Next generation and Sanger sequencing results depicting the site of 19bp deletion in the Basset Hound with POAG.
a) IGV view of the 19 bp deletion in a Basset Hound affected with POAG. The location of this homozygous deletion is chr3:40,614,853–40,614,872 (CanFam3.1). b) Electropherograms depicting the site of the deletion. The red box delineates the affected sequence in wild type, carrier and POAG-affected dogs.
Fig 2.
DNA and corresponding protein sequences in a normal Basset Hound (top) and one with POAG (bottom).
The position of the deletion is indicated with a black arrow and the 19 deleted bases are indicated by shading in the DNA sequence of the clear dog. The deletion generates a frame shift leading to 87 aberrant amino acids (underlined) which introduces a premature stop codon, indicated by shading in the POAG-affected dog.
Fig 3.
Electropherograms depicting the site of the missense mutation in the Basset Fauve de Bretagne affected with POAG.
The red box depicts the exact site of the mutation (CanFam3.1 chr3:40,808,345). At this location, the wild type is GG, the carrier is AG and the POAG case is GG.
Fig 4.
ADAMTS17 protein structure denoting amino acid positions of the Basset Hound and Basset Fauve de Bretagne POAG mutations.
ADAMTS17 is composed of a signal peptide (SP), prodomain (PRO), catalytic domain (CAT) (composed of the metalloproteinase (MP) and disintegrin-like domains (DL)) and an ancillary domain (ANC). The Basset Hound deletion corresponds to amino acid position 65 which is located in PRO. The Basset Fauve de Bretagne mutation corresponds to amino acid position 519 which is located in DL. Adapted from Kelwick et al. [31]
Fig 5.
A selected region of the amino acid sequence of the disintegrin-like domain in the entire ADAMTS family.
The region is centred on the glycine residue (in red) which is highly conserved and is the site of the missense mutation in the Basset Fauve de Bretagne.
Fig 6.
A selected region of the amino acid sequence of the disintegrin-like domain in ADAMTS17 in 31 species.
The region is centred on the glycine residue (in red) which is highly conserved and is the site of the missense mutation in the Basset Fauve de Bretagne.