Expression Tissulaire D'un Gène Potentiellement Impliqué Dans Certaines Maladies Associant Une Atteinte Rétinienne Et Rénale

We have produced a monoclonal antibody (HA34) that specifically reveals the pigmented epithelium in the eye and the proximal convoluted tubules of the kidney, whatever the developmental results obtained with the 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 us to use somatic cell interspecific hybrids to localize the gene implicated 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 include kidney, abnormalities. We propose that this gene is possibly implicated in some of these diseases.