TISSUE EXPRESSION OF A GENE POTENTIALLY I MPLICATED IN SOME DISEASES INVOLVING THE RETINA AND THE KIDNEY

We have produced a monoclonal antibody (HA34) that specifically reveal s the pigmented epithelium in the eye and the proximal convoluted tubu les of the kidney, whatever the developmental results obtained with th e kidney of other mammals suggest that the antigen is human specific. Its molecular weight is approximately 200 kDa. The epitope recognized by HA34 is always present on cell lines grown in vitro. This allowed u s to use somatic cell interspecific hybrids to localize the gene impli cated in the cytogenetic band 11q13, between microsatellites D11S1777 (AFMa046wa9) and D11S913 (AFM164zf12) in a 3 cM space. This region is involved in forms of retinitis pigmented, some of which can also inclu de kidney, abnormalities. We propose that this gene is possibly implic ated in some of these diseases.