Abstract
TheNRLgene encodes an evolutionarily conserved basic motif-leucine zipper transcription factor that is implicated in regulating the expression of the photoreceptor-specific gene rhodopsin.NRLis expressed in postmitotic neuronal cells and in lens during embryonic development, but exhibits a retina-specific pattern of expression in the adult. To understand regulation ofNRLexpression and to investigate its possible involvement in retinopathies, we have determined the complete sequence of the humanNRLgene, identified a polymorphic (CA)nrepeat (identical to D14S64) within theNRL-containing cosmid, and refined its location by linkage analysis. Since a locus for autosomal recessive retinitis pigmentosa (arRP) has been linked to markers at 14q11 and since mutations in rhodopsin can lead to RP, we sequenced genomic PCR products of theNRLgene and of the rhodopsin-Nrl response element from a panel of patients representing independent families with inherited retinal degeneration. The analysis did not reveal any causative mutations in this group of patients. These investigations provide the basis for delineating the DNA sequence elements that regulateNRLexpression in distinct neuronal cell types and should assist in the analysis ofNRLas a candidate gene for inherited diseases/syndromes affecting visual function.
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