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PRPF31 , a gene located at chromosome 19q13.4, encodes the ubiquitous splicing factor PRPF31. The gene lies in a head-to-head arrangement with  TFPT , a poorly characterized gene with a role in cellular apoptosis. Mutations in  PRPF31  have been implicated in autosomal dominant retinitis pigmentosa (adRP), a frequent and important cause of blindness worldwide. Disease associated with  PRPF31  mutations is unusual, in that there is often non-penetrance of the disease phenotype in affected families, caused by differential expression of  PRPF31 . This study aimed to characterize the basic promoter elements of  PRPF31  and  TFPT.  Luciferase reporter constructs were made, using genomic DNA from an asymptomatic individual with a heterozygous deletion of the entire putative promoter region. Fragments were tested by the dual-luciferase reporter assay in HeLa and RPE-1 cell lines. A comparison was made between the promoter regions of symptomatic and asymptomatic mutation-carrying individuals. A patient (CAN493) with adRP was identified, harbouring a regulatory region mutation; both alleles were assayed by the dual-luciferase reporter assay. Luciferase assays led to the identification of core promoters for both  PRPF31  and  TFPT ; despite their shared gene architecture, the two genes appear to be controlled by slightly different regulatory regions. One functional polymorphism was identified in the  PRPF31  promoter that increased transcriptional activation. The change was not, however, consistent with the observed symptomatic–asymptomatic phenotypes in a family affected by  PRPF31 -adRP. Analysis of the mutant promoter fragment from CAN493 showed a &gt;50% reduction in promoter activity, suggesting a disease mechanism of functional haploinsufficiency—the first report of this disease mechanism in adRP.

Expression of PRPF31 and TFPT : regulation in health and retinal disease