FIGURE 1.

A, schematic representation of the domain structure of human AIPL1 protein. AIPL1 consists of an FKBP-like domain (blue), a TPR domain with three tetratricopeptide repeats (red), and a primate-specific proline-rich region (yellow). The sequence and domain organization of mouse AIPL1 are very similar to those of human, except it is lacking the C-terminal proline-rich region. Shown are the commonly reported LCA4-linked AIPL1 mutations (4, 8–10, 54). B, gel filtration profile of AIPL1 on a calibrated Sephacryl 200 column (column volume 125 ml). Arrows indicate elution volumes of 60-, 40-, and 20-kDa standards. C, Coomassie Blue-stained gel showing peak AIPL1 gel filtration fractions.