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A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
1Biochemistry Department, University of Otago, PO Box 56, Dunedin, New Zealand. marion.maw@stonebow.otago.ac.nz
Human Molecular Genetics
|December 10, 1999
Summary
A genetic mutation in the prominin (PROML1) gene causes inherited retinal degeneration by preventing the protein from reaching the cell surface, disrupting photoreceptor disk formation.
Area of Science:
- Genetics
- Cell Biology
- Ophthalmology
Background:
- Vertebrate photoreceptor disks originate from plasma membrane outgrowths.
- Genes encoding retinal proteins in plasma membrane protrusions are candidates for inherited retinal degenerations.
- Prominin (PROML1) is a 5-transmembrane domain protein family member expressed in the retina.
Purpose of the Study:
- To investigate the role of PROML1 in inherited retinal degeneration.
- To identify the genetic cause of autosomal recessive retinal degeneration in a specific pedigree.
Main Methods:
- Molecular genetic analysis of a pedigree.
- Nucleotide sequencing to identify mutations in PROML1.
- Expression studies of prom deletion mutants in CHO cells.
- Immunocytochemistry to determine prom localization in rod photoreceptors.
Main Results:
- Affected individuals were homozygous for a nucleotide 1878 deletion in PROML1.
- The deletion causes a frameshift and premature termination, preventing protein transport to the cell surface.
- Prominin is concentrated in plasma membrane evaginations at the base of rod outer segments.
Conclusions:
- Loss of prominin function due to PROML1 mutations likely causes retinal degeneration.
- Impaired generation or conversion of plasma membrane evaginations into disks may underlie the degeneration.
- PROML1 is a crucial gene for photoreceptor structure and function.
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