The Peripherin/rds Gene

Structural and Functional Analyses
  • Tong Cheng
  • Muna I. Naash


Mutations in the gene encoding the disk rim specific protein, peripherin/rds, have been implicated in the pathogenesis of both autosomal dominant retinitis pigmentosa (ADRP) and various forms of macular dystrophy (MD). Peripherin/rds plays an important role in the morphogenesis and maintenance of the disk rim structure.This role is supported by interactions with other proteins. To better understand how these mutations lead to the development of disease, knowledge of the structure-function relationships of the peripherin/rds gene is needed.To facilitate these studies, genomic clones encoding the murine gene were isolated using bovine cDNA sequences as probes. Sequence analysis of clones that contained the entire coding sequence for mouse peripherin/rds revealed the exon-intron organization of the gene. The gene is composed of three exons (581, 247, and 213bp) and two introns. The first and second introns are 8.6 kb and 3.7 kb in size, respectively. Two major (1.6 and 2.7kb) and three minor (4.0, 5.5, 6.5kb) transcripts were detected on RNA blots. Several transcription start sites were mapped within 26 nucleotides located approximately 200bp upstream from the translation initiation site. However, the lengths of the 3’untranslated portion of the transcripts varied because of utilization of different polyadenylation signals.


Retinal Degeneration Cone Photoreceptor Disk Membrane Macular Dystrophy Cone Dystrophy 
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Copyright information

© Kluwer Academic / Plenum Publishers 1999

Authors and Affiliations

  1. 1.Department of Ophthalmology and Visual SciencesUniversity of Illinois College of MedicineChicago
  2. 2.Department of Molecular GeneticsUniversity of Illinois at ChicagoChicago

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