Analysis of the 5' regulatory region of the human Norrie's disease gene: evidence that a non-translated CT dinucleotide repeat in exon one has a role in controlling expression.

Analysis of the 5', upstream regions of the Norrie's disease gene (NDP) from 1380bp to +428 (relative to the putative transcription start site) has been undertaken by transfection analysis. Constructs in which a deletion series of sequences from the region were linked to a luciferase reporter gene have been introduced by electroporation into the retinoblastoma cell line, WeriB. Both positive and negative regulatory elements have been identified, and WeriB proved to be a useful cell-line in which to study some aspects of the regulation of this retinal expressed locus. The analysis, therefore, also provides an indication of additional sequences for mutation detection in those patients in which no alterations in the three exons of the gene have been detected.