EXPRESSION AND CHROMOSOMAL LOCALIZATION OF CDNA CLONES FROM AN ENRICHED HUMAN RETINAL-PIGMENT EPITHELIAL (RPE) CELL-LINE LIBRARY - IDENTIFICATION OF 2 RPE-SPECIFIC GENES

We have previously constructed an enriched cDNA library from a human r etinal pigment epithelium (RPE) cell line and generated expressed sequ ence tags (ESTs) from novel clones. Here, we report the analysis of ex pression of 14 cDNAs and identify two clones, AA1 and AA28, that appea r to be specifically expressed in RPE but not in any other tissue test ed. We have also localized 15 novel cDNAs (including the two RPE-speci fic cDNAs) to human chromosomes using in situ hybridization or in conj unction with somatic cell hybrid analysis. The cDNAs were mapped to th e following chromosomal regions: 1p35-->p33, 1q41-->q42 (two clones), 3q11.2-->q13.1, 3q24-->q25, 4q13-->q21, 6q22-->q23, 7q34-->q36, 10q23- ->q24, 11q23-->q24, 15q25-->q26, 19p13.3, 20p13, 21q11.2-->q21, and 21 q22.2-->q22.3. The genetic and functional analysis of the two RPE-spec ific genes should contribute to a better understanding of RPE function . Chromosomal localization of RPE cDNAs will be valuable in identifyin g candidate genes for inherited diseases involving RPE dysfunction and aid in establishing the expression map of the human genome.