[HTML][HTML] RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins
Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene account for almost
20% of patients with retinitis pigmentosa. Most mutations are detected in alternatively
spliced RPGR-ORF15 isoform (s), which are primarily but not exclusively expressed in the
retina. We show that, in addition to the axoneme, the RPGR-ORF15 protein is localized to
the basal bodies of photoreceptor connecting cilium and to the tip and axoneme of sperm
flagella. Mass spectrometric analysis of proteins that were immunoprecipitated from the …
20% of patients with retinitis pigmentosa. Most mutations are detected in alternatively
spliced RPGR-ORF15 isoform (s), which are primarily but not exclusively expressed in the
retina. We show that, in addition to the axoneme, the RPGR-ORF15 protein is localized to
the basal bodies of photoreceptor connecting cilium and to the tip and axoneme of sperm
flagella. Mass spectrometric analysis of proteins that were immunoprecipitated from the …