Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
Mutations in the RDS gene, which encodes the photoreceptor glycoprotein peripherin, have been sought in families with autosomal dominant retinal dystrophies. A cysteine deletion at codon 118/119 is associated with retinitis pigmentosa in one. Three families with similar macular dystrophy have mutations at codon 172, arginine being substituted by tryptophan in two and by glutamine in one. A stop sequence at codon 258 exists in a family with adult vitelliform macular dystrophy. These findings demonstrate that both retinitis pigmentosa and macular dystrophies are caused by mutations in RDS and that the functional significance of certain amino-acids in peripherin-RDS may be different in cones and rods.
Wells
J
J
Department of Clinical Ophthalmology, Moorfields Eye Hospital, London, UK.
Wroblewski
J
J
Keen
J
J
Inglehearn
C
C
Jubb
C
C
Eckstein
A
A
Jay
M
M
Arden
G
G
Bhattacharya
S
S
Fitzke
F
F
D000328:Adult; D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D003545:Cysteine; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D005973:Glutamine; D006801:Humans; D007381:Intermediate Filament Proteins; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D064531:Peripherins; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012162:Retinal Degeneration / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D017384:Sequence Deletion; D014364:Tryptophan
D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D009838:Oligodeoxyribonucleotides; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D005973:Glutamine; D014364:Tryptophan; D004247:DNA; D001120:Arginine; D003545:Cysteine