Abstract
We have enriched human adult retina, fetal eye (11 wk) and retinal pigment epithelium (RPE) cell line cDNA libraries for tissue-specific genes using a novel biotin-based subtraction procedure 1,2. At least 70% of the random cDNA clones from the subtracted retina and RPE libraries are not constitutively expressed. To identify candidate genes for eye diseases, several novel cDNA clones from subtracted libraries (as determined by sequence comparison) are being localized to human chromosomes using PCR-assays or in situ hybridization. Expression analysis of clones from a subtracted retinal library identified a cDNA, AS321, that showed neural retina-specific expression. AS321 encodes a putative DNA binding protein of the leucine zipper family and is named NRL3. We have now isolated and characterized the NRL gene and have localized it to human chromosome 14q11.1-q11.24. Based on the gene structure, PCR primers have been designed and will be used to screen for mutations within the NRL gene in patients with retinal diseases. A polymorphic microsatellite (CA)n repeat has been identified within the NRL cosmid and should be valuable for linkage analysis.
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Jackson, A.U., Zheng, K., Yang-Feng, T.L., Swaroop, A. (1993). Identification of Candidate Genes for Eye Diseases: Studies on a Neural Retina-Specific Gene Encoding a Putative Dna Binding Protein of Leucine Zipper Family. In: Hollyfield, J.G., Anderson, R.E., LaVail, M.M. (eds) Retinal Degeneration. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2974-3_17
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DOI: https://doi.org/10.1007/978-1-4615-2974-3_17
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