High impact information on ATOX1

• We cloned canine Atox1, which shows conserved motifs of the copper-binding domain (MTCXXC) and of the lysine-rich region (KTGK), and showed 88, 80, and 41% amino acid sequence identity with the orthologous mouse, human, and yeast proteins [1].
• Mapping of Atox1 and a marker closely linked to the canine copper toxicosis locus indicated lack of synteny [1].
• The canine Atox1 gene spans about 4 kb, with a 204-bp open reading frame cDNA contained within two exons [1].
• Characterization and chromosomal localization of five canine ATOX1 pseudogenes [2].
• We have isolated six ATOX1 loci from the canine genome in BAC clones [2].

Analytical, diagnostic and therapeutic context of ATOX1

• Fluorescent in situ hybridization allowed us to map the genuine ATOX1 gene to CFA4q24-->q31 and the ATOX1 pseudogenes to CFA19q13.1, CFA4q24-->q31, CFA18q24-->q25, CFA9q22.1 -->q22.2 and CFA20q11-->q12 [2].
• No gross deletions of Atox1 could be identified in the affected Bedlington terriers by Southern blot analysis of genomic DNA [1].
• Sequence analysis of the coding regions, including intron/exon boundaries, showed no mutations in Atox1 from genomic DNA of an affected dog [1].

References