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J. Biol. Chem., Vol. 276, Issue 15, 12091-12099, April 13, 2001
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From the Berman-Gund Laboratory for the Study of Retinal
Degenerations, Harvard Medical School, Massachusetts Eye and Ear
Infirmary, Boston, Massachusetts 02114
Retinitis pigmentosa (RP) is a blinding retinal
disease in which the photoreceptor cells degenerate. Mutations in the
gene for retinitis pigmentosa GTPase regulator (RPGR) are a frequent cause of RP. The function of RPGR is not well understood, but it is
thought to be a putative guanine nucleotide exchange factor for an
unknown G protein. Ablation of the RPGR gene in mice
suggested a role in maintaining the polarized distribution of opsin
across the cilia. To investigate its function, we used a protein
interaction screen to identify candidate proteins that may interact
physiologically with RPGR. One such protein, designated
RPGR-interacting protein (RPGRIP), is expressed specifically in rod and
cone photoreceptors. It consists of an N-terminal region predicted to
form coiled coil structures linked to a C-terminal tail that binds
RPGR. In vivo, both proteins co-localize in the
photoreceptor connecting cilia. RPGRIP is stably associated with
the ciliary axoneme independent of RPGR and is resistant to extraction
under conditions that partially solubilized other cytoskeletal
components. When over-expressed in heterologous cell lines, RPGRIP
appears in insoluble punctate and filamentous structures. These data
suggest that RPGRIP is a structural component of the ciliary axoneme,
and one of its functions is to anchor RPGR within the cilium. RPGRIP is
the only protein known to localize specifically in the photoreceptor
connecting cilium. As such, it is a candidate gene for human
photoreceptor disease. The tissue-specific expression of RPGRIP
explains why mutations in the ubiquitously expressed RPGR confer a
photoreceptor-specific phenotype.
Retinitis Pigmentosa GTPase Regulator (RPGR)-interacting Protein
Is Stably Associated with the Photoreceptor Ciliary Axoneme and Anchors
RPGR to the Connecting Cilium*
*
This work was supported by National Institutes of Health
Grant EY10309, the Foundation Fighting Blindness (Baltimore, MD), and
the Chatlos Foundation (Longwood, FL).The costs of publication of this
article were defrayed in part by the
payment of page charges. The article
must therefore be hereby marked
"advertisement" in accordance with 18 U.S.C. Section
1734 solely to indicate this fact.
Recipient of a career development award from Research to Prevent
Blindness. To whom correspondence should be addressed: Berman-Gund Lab., Massachusetts Eye and Ear Infirmary, 243 Charles St., Boston, MA
02114. Tel.: 617-573-3904; Fax: 617-573-3216; E-mail:
tli@meei.harvard.edu.
Copyright © 2001 by The American Society for Biochemistry and Molecular Biology, Inc.
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