@article {1363194, title = {A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT}, journal = {J Mol Genet Med}, volume = {7}, number = {2}, year = {2013}, month = {2013 Aug}, abstract = {Mutations in have been implicated in retinitis pigmentosa, a blinding disease caused by degeneration of rod photoreceptors. The disease mechanism in the majority of cases is haploinsufficiency. Crucially, attempts at generation of animal models of disease have proved unsuccessful, yielding animals with a visual phenotype that does not mirror human disease. This suggests that, in these animals, the transcriptional regulation of is different to humans and compared to other species. Study of the evolution of the core promoter has important implications for our understanding of human disease, as disease phenotype is modified by differentially expressed alleles in the population. lies in a head-to-head arrangement with , a gene involved in cellular apoptosis. The two genes were shown to share common regulatory elements in the human genome. In this study, the core promoters of and were characterised by dual-luciferase reporter assay using genomic DNA from the green monkey, domestic dog and house mouse. It was found that the core promoters were conserved between human and monkey. In dog, the core promoter was conserved, but different gene architecture meant the gene was controlled by a long-range promoter lying some 2000bp from the transcription start site. There was very low level of conservation (\<20\%) of the 5{\textquoteright} region between mouse and human. It was shown that mouse populations did not show variable expression levels, revealing a potential explanation for the lack of phenotype observed in the knock-out mouse model.}, issn = {1747-0862}, doi = {10.4172/1747-0862.1000067}, author = {Rose, Anna M and Shah, Amna Z and Alfano, Giovanna and Bujakowska, Kinga M and Barker, Amy F and Robertson, J Louis and Rahman, Sufia and S{\'a}nchez, Lourdes Vald{\'e}s and Diaz-Corrales, Francisco J and Chakarova, Christina F and Krishna, Abhay and Bhattacharya, Shomi S} }