Organization of the Chicken and Xenopus Peripherin/rds Gene

  • Chibo Li
  • John O’Brien
  • Muayyad R. Al-Ubaidi
  • Muna I. Naash


Peripherin/rds is an integral membrane glycoprotein located in the rim region of rod and cone outer segment disk membranes (1). Interest in peripherin/rds has increased since the discovery of its association with different forms of human retinal diseases. Over 50 different pathogenic mutations have been identified that are associated with retinitis pigmentosa (RP), pattern dystrophy, retinitis punctata albescens, macular dystrophy (MD), butterfly-shaped MD, or cone-rod dystrophy (2). These mutations include base substitutions causing missense mutations or premature termination, and in-frame insertion/deletion mutations that change the reading frame. The majority of these mutations are located in the large intradiscal loop, emphasizing the important role played by this region in the function of peripherin/rds.


Retinitis Pigmentosa Retinal Degeneration Macular Dystrophy Integral Membrane Glycoprotein Autosomal Dominant Retinitis Pigmentosa 
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Copyright information

© Springer Science+Business Media New York 2001

Authors and Affiliations

  • Chibo Li
    • 1
  • John O’Brien
    • 2
  • Muayyad R. Al-Ubaidi
    • 3
  • Muna I. Naash
    • 3
  1. 1.OphthalmologyNorthwestern UniversityChicagoUSA
  2. 2.Ophthalmology & Visual ScienceUniversity of Texas School of MedicineHoustonUSA
  3. 3.Cell BiologyUniversity of Oklahoma Health Sciences CenterOklahoma CityUSA

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