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RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis
Jungyeon Won1, Elaine Gifford, Richard S Smith
1The Jackson Laboratory, Bar Harbor, ME 04609, USA.
Human Molecular Genetics
|August 15, 2009
Summary
Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) is crucial for rod outer segment formation in photoreceptors. This study reveals RPGRIP1
Area of Science:
- Ophthalmology
- Genetics
- Cell Biology
Background:
- Mutations in RPGRIP1 cause Leber Congenital Amaurosis and retinitis pigmentosa.
- Previous models showed RPGRIP1 involvement in outer segment disc morphogenesis.
- The precise function of RPGRIP1 and its isoforms in photoreceptors remains unclear.
Purpose of the Study:
- To investigate the role of RPGRIP1 in photoreceptor development and function.
- To characterize a novel mouse model (Rpgrip1(nmf247)) with a splice acceptor site mutation in Rpgrip1.
- To compare the phenotype of Rpgrip1(nmf247) mice with existing models.
Main Methods:
- Generation and phenotypic analysis of Rpgrip1(nmf247) mice.
- Ultrastructural studies of photoreceptor outer segments.
- Analysis of RPGRIP1 isoform expression.
Main Results:
- Rpgrip1(nmf247) mice exhibit earlier and more severe photoreceptor degeneration than Rpgrip1(tm1Tili) mice.
- Homozygous Rpgrip1(nmf247) mutants fail to form rod outer segments despite normal connecting cilia.
- Absence of multiple Rpgrip1 isoforms observed in Rpgrip1(nmf247) mice.
Conclusions:
- RPGRIP1 is essential not only for outer segment disc morphogenesis but also for rod outer segment formation.
- Different RPGRIP1 isoforms may have distinct roles in photoreceptor biology.
- Splice variants must be considered when creating gene-targeted mutations for research.
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