Molecular and Genetic Medicine

Shomi S Bhattacharya

Publications

• Research Article
  A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT
  Author(s): Anna M Rose, Amna Z Shah, Giovanna Alfano, Kinga M Bujakowska, Amy F Barker, J Louis= Robertson, Sufia Rahman, Lourdes Valdés Sánchez, Francisco J Diaz-Corrales, Christina F Chakarova, Abhay Krishna and Shomi S BhattacharyaAnna M Rose, Amna Z Shah, Giovanna Alfano, Kinga M Bujakowska, Amy F Barker, J Louis= Robertson, Sufia Rahman, Lourdes Valdés Sánchez, Francisco J Diaz-Corrales, Christina F Chakarova, Abhay Krishna and Shomi S Bhattacharya
  
  Mutations in PRPF31 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 PRPF31 is different to humans and compared to other species. Study of the evolution of the PRPF31 core promoter has important implications for our understanding of human disease, as disease phenotype is modified by differentially expressed alleles in the population. PRPF31 lies in a head-to-head arrangement with TFPT, a gene involved in cellular apoptosis. The two genes were shown to share common regulatory elements in the human genome. In this st.. Read More»
  DOI: 10.4172/1747-0862.1000067

  Abstract PDF