Cayman Ataxia (ATCAY)

The Cayman ataxia locus, ATCAY, was mapped to a region of 19p13.3. Comparative mapping suggested that the mouse mutation """jittery,""" which maps to the homologous region of mouse chromosome 10, may be homologous to ATCAY. Because many spontaneous mouse mutations are caused by deletions or insertions, Bomar et al. (2003) screened all genes from the critical region of mouse chromosome 10 by Southern blot hybridization. One mutation from an unknown predicted gene showed DNA changes in 2 allelic mouse mutants. In silico restriction mapping predicted the location of mutations in the mouse gene causing jittery and """hesitant.""" Bomar et al. (2003) identified the human ATCAY gene as the homolog of gene mutant in jittery and hesitant within the Cayman ataxia locus.