Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia
Abstract Phosphodiesterase-6 (PDE6) is an essential effector enzyme in vertebrate
photoreceptor cells. Mutations in rod and cone PDE6 cause recessive retinitis pigmentosa
and achromatopsia, respectively. The mechanisms of missense PDE6 mutations underlying
severe visual disorders are poorly understood. To probe these mechanisms, we expressed
seven known missense mutants of cone PDE6C in rods of transgenic Xenopus laevis and
examined their stability and compartmentalization. PDE6C proteins with mutations in the …
photoreceptor cells. Mutations in rod and cone PDE6 cause recessive retinitis pigmentosa
and achromatopsia, respectively. The mechanisms of missense PDE6 mutations underlying
severe visual disorders are poorly understood. To probe these mechanisms, we expressed
seven known missense mutants of cone PDE6C in rods of transgenic Xenopus laevis and
examined their stability and compartmentalization. PDE6C proteins with mutations in the …