Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival

• DOI: 10.1073/pnas.1009437108
• Publication Date: 2010-12-09T04:21:33Z
• Authors: Yoshihiro Omori; Taro Chaya; Kimiko Katoh; Naoko Kajimura; Shigeru Sato; Koichiro Muraoka; Shinji Ueno; Toshiyuki Koyasu; Mineo Kondo; Takahisa Furukawa
• Keywords: Ciliogenesis; Photoreceptor cell; Ciliopathy; Intraflagellar Transport

Cilia function as cell sensors in many organs, and their disorders are referred to “ciliopathies.” Although ciliary components transport machinery have been well studied, regulatory mechanisms of formation maintenance poorly understood. Here we show that male germ cell-associated kinase (Mak) regulates retinal photoreceptor length subcompartmentalization. Mak was localized both the connecting cilia outer-segment axonemes cells. In -null retina, photoreceptors exhibit elongated progressive degeneration. We observed accumulation intraflagellar 88 (IFT88) IFT57, expansion kinesin family member 3A (Kif3a), acetylated α-tubulin signals cilia. found abnormal rhodopsin bodies at postnatal day 14. addition, overexpression retinitis pigmentosa 1 (RP1), a microtubule-associated protein axonemes, induced elongation, coexpression rescued excessive elongation by RP1. The RP1 N-terminal portion induces increased intensity labeling cells is phosphorylated Mak. These results suggest essential for regulation required long-term survival photoreceptors.