The deduced amino acid sequence of equine DNA-PK CS is compared with the human counterpart in Figure 2. Comparison starts at amino acid 180 of the human sequence. Potential DNA-PK autophosphorylation sites and leucine zipper motifs are underlined. The conserved protein kinase motifs are shown in bold. Sequence comparison of the genomic fragments isolated from the 1821 and 0176 cell lines.
Splice site is underlined and deduced amino acid sequence of the normal and mutated exon is shown.
Positions of amplification primers are denoted with arrows. Furthermore, in all samples from normal animals, the N probe hybridizes strongly. In two normal animals, both the N and S probes hybridize well, identifying these animals as heterozygotes. From these data, we conclude that this specific five-nucleotide deletion is responsible for a significant fraction of the cases of SCID in Arabian horses. Thus, it is likely that truncation of DNA-PK CS at amino acid 3160 results in an unstable form of the protein.