P 206 CAT3, new cataract gene on mouse chromosome 10: Linkage studies and phenotypic characterization

Purpose Anti-crystallin autoantibodies have been often demonstrated in patients with cataract but only few studies point out on autoantibodies directed against the different crystallin classes. Our aim was to determmr the prevalence of antI-a-, anti-p, or antI-7 crystalho autoantibodIes m sera from 54 patients with lugh level of anti-total lens extract antibodies in comparison to control group of 200 healthy men and women. Methods An ELISA was applied using as antigens fractions ob-tamed by gel chromatography of porcine eye lens saline extract. Results Circulating autoantibodies were detected in cataract patients against-b and y crystallin family (in 35.18% against-pin in 9.25% against y-and in 20.37% against both p-and y-crystallins). Anti-a-clystallin autoantibodies were present in 7 patients (12.96%) and autoantibodies directed to all three classes crystallins were found in 12 cases (22.22%). Conclusion The more frequent detection of autoantibodies directed to l3-and y-crystallins family could be particularly explained with their relatively tow Mr and leakage through the lens capsule. The lower incidence of anti-a-crystallin autoantibodies in sera might be due to their higher Mr and rare exposure to the immune system TRE CRYNER ELEMENT IN TBE y-CRYSTALLIN PROMOTOR MTEBACTS AS SINGLE STRAND WITH LENS PROTEINS. &gg& Baaed upon DNA sequence analysis a 36 bp DNA fragment from various y-crysUn promotors was defined as " cryner ". The presence of nested repeats made this structure a candidate for DNA-protein interaction. The aim of the study was to lind, if interactions between cvr and lentiadar proteins could be demonstrated experimentaUy. Muhods 3zP-lahelled oligonucleotides cowing various sections of the dSermt qmer elements were used as single-or double stranded DNA in gel-retention experiments as biidii partners for either murine lens extract or purified twine a-crystallins. && Using lens extracts interaction with the single-stranded cryner element from murine yA-, rB-, vD-, and yE-crystallin could he observed. Since the 3'-end of cryner contains a @Z-rich sequence, the corresponding cassette (CCCCCCGCGG) was used in different combinations leading to distinct mteractions with leas protans and even a-crystallin Additionally, single stranded DNA revealing the sequence between cryner and the TATA-box of the murine yB-crys.taUin exhibit specific interactlow with lens extracts and a-crystallin containing fractions. This interaction is found mainly in the yB-crystallin promoter, but only weakly in the corresponding yA-crystallin sequence The difference to the non-binding yF-crystallin promoter can be attributed to three bases, which do not include the commonly present GC box. ~oneZusions The results confmn experimentally the hypothesis that …