May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Identification of Transcription Initiation Sites of Retinal Expressed Genes
Author Affiliations & Notes
  • V. Roni
    Molecular genetics laboratory, University Eye Hospital Tuebingen, Tuebingen, Germany
  • B. Wissinger
    Molecular genetics laboratory, University Eye Hospital Tuebingen, Tuebingen, Germany
  • W. Raffelsberger
    Genetics and Molecular and Cellular Biology, IGBMC, Strasburg, France
  • A. Mukhopadhyay
    Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
  • Footnotes
    Commercial Relationships  V. Roni, None; B. Wissinger, None; W. Raffelsberger, None; A. Mukhopadhyay, None.
  • Footnotes
    Support  European Union Research Training Network ‘RETNET’ MRTN–CT–2003–504003
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 3076. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      V. Roni, B. Wissinger, W. Raffelsberger, A. Mukhopadhyay; Identification of Transcription Initiation Sites of Retinal Expressed Genes . Invest. Ophthalmol. Vis. Sci. 2005;46(13):3076.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Abstract: : Purpose:The aim of this study is the identification of transcription initiation sites of two retinal expressed genes RDH12 and SLC24A2. RDH12 gene codes for a photoreceptor specific retinal–dehydrogenase and is implicated in Leber congenital amaurosis. SLC24A2 codes for a potassium–dependent sodium–calcium exchanger in cone photoreceptor. Methods: We used available public database information, namely EST sequence and cross–species comparisons to perform in silico assembly and analysis of 5'transcript termini. In addition RNA from human retina was used for Cap Finder RACE experiments to study and characterize the ultimate 5' terminus of the genes of interest. Results: The assembly of ESTs present in the public database let us to define additional transcribed sequences extending to the 5'of the ref seq entries of the two genes. With the RACE experiment we were able to confirm these sequences. Moreover we also found additional exons that were not present in the databases. The new model for RDH12 contains three new untranslated exons 5'to the previously known sequence, one of which occurs in two different splice variants. The new model for SLC24A2 predicts two sites of transcription initiation as well as two additional exons that are alternatively spliced. Conclusions: In silico and experimental analysis of the transcripts proved to be essential for the ultimate mapping of the initiation site. This information constitutes the basis for further exploration of the promoter and others cis–regulatory sequences at the 5'end of the gene.

Keywords: retina • gene/expression • transcription 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×