[HTML][HTML] Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa
Peripherin-2 and Rom-1 are homologous tetraspanning membrane proteins that assemble
into noncovalent tetramers and higher order disulfide-linked oligomers implicated in
photoreceptor disc morphogenesis. Individuals who coinherit a L185Pperipherin-2 mutation
and a null or G113Erom-1 mutation are afflicted with retinitis pigmentosa, whereas
individuals who inherit only one defective gene are normal. We examined the expression,
subunit assembly, and disulfide-mediated oligomerization of L185P and L185A peripherin-2 …
into noncovalent tetramers and higher order disulfide-linked oligomers implicated in
photoreceptor disc morphogenesis. Individuals who coinherit a L185Pperipherin-2 mutation
and a null or G113Erom-1 mutation are afflicted with retinitis pigmentosa, whereas
individuals who inherit only one defective gene are normal. We examined the expression,
subunit assembly, and disulfide-mediated oligomerization of L185P and L185A peripherin-2 …