Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies

Shirley He, Sunil K Parapuram, Toby W Hurd, Babak Behnam, Ben Margolis, Anand Swaroop, Hemant Khanna

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations in the cilia-centrosomal protein Retinitis Pigmentosa GTPase Regulator (RPGR) are a frequent cause of retinal degeneration. The RPGR gene undergoes complex alternative splicing and encodes multiple protein isoforms. To elucidate the function of major RPGR isoforms (RPGR 1-19 and RPGR ORF15), we have generated isoform-specific antibodies and examined their expression and localization in the retina. Using sucrose-gradient centrifugation, immunofluorescence and co-immunoprecipitation methods, we show that RPGR isoforms localize to distinct sub-cellular compartments in mammalian photoreceptors and associate with a number of cilia-centrosomal proteins. The RCC1-like domain of RPGR, which is present in all major RPGR isoforms, is sufficient to target it to the cilia and centrosomes in cultured cells. Our findings indicate that multiple isotypes of RPGR may perform overlapping yet somewhat distinct transport-related functions in photoreceptors.
Original languageEnglish
Pages (from-to)366-76
Number of pages11
JournalVision Research
Volume48
Issue number3
Early online date27 Sep 2007
DOIs
Publication statusPublished - Feb 2008

Keywords

  • Cilia
  • Centrosomes
  • photoreceptor
  • Ciliary transport
  • Rod Outer Segment

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