Insights into photoreceptor ciliogenesis revealed by animal models

Acland, 1994, XLPRA: a canine retinal degeneration inherited as an X-linked trait, Am. J. Med. Genet., 52, 27, 10.1002/ajmg.1320520106 Adly, 2014, Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX, Hum. Mutat., 35, 36, 10.1002/humu.22477 Airik, 2014, Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling, J. Am. Soc. Nephrol., 25, 2573, 10.1681/ASN.2013050565 Aldaz, 2005, Insights into microtubule nucleation from the crystal structure of human gamma-tubulin, Nature, 435, 523, 10.1038/nature03586 Anand, 2012, Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases, Expert Opin. Ther. Targets, 16, 541, 10.1517/14728222.2012.680956 Andersen, 2003, Proteomic characterization of the human centrosome by protein correlation profiling, Nature, 426, 570, 10.1038/nature02166 Arquint, 2016, The PLK4-STIL-SAS-6 module at the core of centriole duplication, Biochem. Soc. Trans., 44, 1253, 10.1042/BST20160116 Arts, 2009, Focus on molecules: RPGRIP1, Exp. Eye Res., 88, 332, 10.1016/j.exer.2008.03.019 Audo, 2011, Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort, Hum. Mutat., 32, E2091, 10.1002/humu.21460 Avasthi, 2013, Germline deletion of Cetn1 causes infertility in male mice, J. Cell Sci., 126, 3204, 10.1242/jcs.128587 Avasthi, 2009, Trafficking of membrane proteins to cone but not rod outer segments is dependent on heterotrimeric kinesin-II, J. Neurosci., 29, 14287, 10.1523/JNEUROSCI.3976-09.2009 Avidor-Reiss, 2013, Building a centriole, Curr. Opin. Cell Biol., 25, 72, 10.1016/j.ceb.2012.10.016 Awata, 2014, NPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone, J. Cell Sci., 127, 4714, 10.1242/jcs.155275 Baala, 2007, Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome, Am. J. Hum. Genet., 81, 170, 10.1086/519494 Bachmann-Gagescu, 2015, The ciliopathy protein CC2D2A associates with NINL and functions in RAB8-MICAL3-regulated vesicle trafficking, PLoS Genet., 11, e1005575, 10.1371/journal.pgen.1005575 Bachmann-Gagescu, 2012, Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures, J. Med. Genet., 49, 126, 10.1136/jmedgenet-2011-100552 Bader, 2012, Analysis of KIF17 distal tip trafficking in zebrafish cone photoreceptors, Vision REs, 75, 37, 10.1016/j.visres.2012.10.009 Baker, 2003, IFT20 links kinesin II with a mammalian intraflagellar transport complex that is conserved in motile flagella and sensory cilia, J. Biol. Chem., 278, 34211, 10.1074/jbc.M300156200 Banterle, 2017, Centriole biogenesis: from identifying the characters to understanding the plot, Annu. Rev. Cell Dev. Biol., 33, 23, 10.1146/annurev-cellbio-100616-060454 Barbelanne, 2014, Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery, Hum. Mol. Genet. Barbelanne, 2013, Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis, Hum. Mol. Genet., 22, 2482, 10.1093/hmg/ddt100 Barenz, 2011, Centriolar satellites: busy orbits around the centrosome, Eur. J. Cell Biol., 90, 983, 10.1016/j.ejcb.2011.07.007 Barker, 2014, Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks, BMC Genomics, 15, 531, 10.1186/1471-2164-15-531 Baylor, 1979, Responses of retinal rods to single photons, J. Physiol., 288, 613, 10.1113/jphysiol.1979.sp012716 Beck, 2014, Mutation of POC1B in a severe syndromic retinal ciliopathy, Hum. Mutat., 35, 1153, 10.1002/humu.22618 Beltran, 2012, Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa, Proc. Natl. Acad. Sci. U. S. A, 109, 2132, 10.1073/pnas.1118847109 Bettencourt-Dias, 2008, Double life of centrioles: CP110 in the spotlight, Trends Cell Biol., 18, 8, 10.1016/j.tcb.2007.11.002 Bettencourt-Dias, 2011, Centrosomes and cilia in human disease, Trends Genet., 27, 307, 10.1016/j.tig.2011.05.004 Bielas, 2009, Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies, Nat. Genet., 41, 1032, 10.1038/ng.423 Blacque, 2006, Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport, Cell. Mol. Life Sci., 63, 2145, 10.1007/s00018-006-6180-x Boldt, 2011, Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice, J. Clin. Invest., 121, 2169, 10.1172/JCI45627 Boldt, 2016, An organelle-specific protein landscape identifies novel diseases and molecular mechanisms, Nat. Commun., 7, 11491, 10.1038/ncomms11491 Bouckson-Castaing, 1996, Molecular characterisation of ninein, a new coiled-coil protein of the centrosome, J. Cell Sci., 109, 179, 10.1242/jcs.109.1.179 Boye, 2014, Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy, PLoS One, 9, 10.1371/journal.pone.0092928 Boylan, 2000, Identification of a novel protein interacting with RPGR, Hum. Mol. Genet., 9, 2085, 10.1093/hmg/9.14.2085 Burgoyne, 2015, Rod disc renewal occurs by evagination of the ciliary plasma membrane that makes cadherin-based contacts with the inner segment, Proc. Natl. Acad. Sci. U. S. A, 112, 15922, 10.1073/pnas.1509285113 Burnight, 2014, CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype, Gene Ther., 21, 662, 10.1038/gt.2014.39 Cajanek, 2014, Cep164 triggers ciliogenesis by recruiting Tau tubulin kinase 2 to the mother centriole, Proc. Natl. Acad. Sci. U. S. A, 111, E2841, 10.1073/pnas.1401777111 Cantagrel, 2008, Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome, Am. J. Hum. Genet., 83, 170, 10.1016/j.ajhg.2008.06.023 Casenghi, 2003, Polo-like kinase 1 regulates Nlp, a centrosome protein involved in microtubule nucleation, Dev. Cell, 5, 113, 10.1016/S1534-5807(03)00193-X Caspary, 2007, The graded response to Sonic Hedgehog depends on cilia architecture, Dev. Cell, 12, 767, 10.1016/j.devcel.2007.03.004 Cevik, 2010, Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans, J. Cell Biol., 188, 953, 10.1083/jcb.200908133 Chaki, 2012, Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling, Cell, 150, 533, 10.1016/j.cell.2012.06.028 Chaki, 2011, Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies, Kidney Int., 80, 1239, 10.1038/ki.2011.284 Chang, 2006, In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse, Hum. Mol. Genet., 15, 1847, 10.1093/hmg/ddl107 Chang, 2013, Essential role of Cenexin1, but not Odf2, in ciliogenesis, Cell Cycle, 12, 655, 10.4161/cc.23585 Chang, 2003, Epsilon-tubulin is required for centriole duplication and microtubule organization, Nat. Cell Biol., 5, 71, 10.1038/ncb900 Chang, 2000, Delta-tubulin and epsilon-tubulin: two new human centrosomal tubulins reveal new aspects of centrosome structure and function, Nat. Cell Biol., 2, 30, 10.1038/71350 Chavali, 2016, A CEP215-HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer, Nat. Commun., 7, 11005, 10.1038/ncomms11005 Chen, 2014, A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation, Curr. Biol., 24, 2327, 10.1016/j.cub.2014.08.029 Chen, 2006, The role of microtubule actin cross-linking factor 1 (MACF1) in the Wnt signaling pathway, Genes Dev., 20, 1933, 10.1101/gad.1411206 Chen, 2002, CP110, a cell cycle-dependent CDK substrate, regulates centrosome duplication in human cells, Dev. Cell, 3, 339, 10.1016/S1534-5807(02)00258-7 Cheng, 2012, Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome, PLoS One, 7, 10.1371/journal.pone.0044975 Ching, 2000, Cloning of three novel neuronal Cdk5 activator binding proteins, Gene, 242, 285, 10.1016/S0378-1119(99)00499-0 Cideciyan, 2011, Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy, Hum. Mol. Genet., 20, 1411, 10.1093/hmg/ddr022 Cole, 1992, Isolation of a sea urchin egg kinesin-related protein using peptide antibodies, J. Cell Sci., 101, 291, 10.1242/jcs.101.2.291 Cole, 1998, Chlamydomonas kinesin-II-dependent intraflagellar transport (IFT): IFT particles contain proteins required for ciliary assembly in Caenorhabditis elegans sensory neurons, J. Cell Biol., 141, 993, 10.1083/jcb.141.4.993 Collin, 2017, Applications of antisense oligonucleotides for the treatment of inherited retinal diseases, Curr. Opin. Ophthalmol., 28, 260, 10.1097/ICU.0000000000000363 Collin, 2010, Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa, Am. J. Hum. Genet., 86, 783, 10.1016/j.ajhg.2010.03.016 Coppieters, 2010, CEP290, a gene with many faces: mutation overview and presentation of CEP290base, Hum. Mutat., 31, 1097, 10.1002/humu.21337 Corral-Serrano, 2015, Investigating the role of C2orf71 in the pathogenesis of retinitis pigmentosa, IOVS (Investig. Ophthalmol. Vis. Sci.), 56, 4643 Corral-Serrano, 2018, C2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish, Sci. Rep., 8, 9675, 10.1038/s41598-018-27928-7 Cortes, 2016, Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function, Sci. Rep., 6, 24083, 10.1038/srep24083 Craige, 2010, CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content, J. Cell Biol., 190, 927, 10.1083/jcb.201006105 Daly, 2016, CEP164-null cells generated by genome editing show a ciliation defect with intact DNA repair capacity, J. Cell Sci., 129, 1769, 10.1242/jcs.186221 Dantas, 2012, Such small hands: the roles of centrins/caltractins in the centriole and in genome maintenance, Cell. Mol. Life Sci., 69, 2979, 10.1007/s00018-012-0961-1 Dauber, 2012, Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein, J. Clin. Endocrinol. Metab., 97, E2140, 10.1210/jc.2012-2150 Delgehyr, 2005, Microtubule nucleation and anchoring at the centrosome are independent processes linked by ninein function, J Cell Sci, 118, 1565, 10.1242/jcs.02302 Delaval, 2010, Pericentrin in cellular function and disease, J. Cell Biol., 188, 181, 10.1083/jcb.200908114 den Hollander, 2007, Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis, Nat. Genet., 39, 889, 10.1038/ng2066 den Hollander, 2006, Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis, Am. J. Hum. Genet., 79, 556, 10.1086/507318 den Hollander, 2008, Leber congenital amaurosis: genes, proteins and disease mechanisms, Prog. Retin. Eye Res., 27, 391, 10.1016/j.preteyeres.2008.05.003 Dharmat, 2018, SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium, J. Cell Biol., 217, 2851, 10.1083/jcb.201712117 Di Gioia, 2015, Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network, Hum. Mol. Genet., 24, 3359, 10.1093/hmg/ddv085 Di Gioia, 2012, FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies, Hum. Mol. Genet., 21, 5174, 10.1093/hmg/dds368 DiCarlo, 2018, Gene therapy and genome surgery in the retina, J. Clin. Invest., 128, 2177, 10.1172/JCI120429 DiCarlo, 2017, CRISPR-cas genome surgery in Ophthalmology, Transl. Vis. Sci. Technol., 6, 13, 10.1167/tvst.6.3.13 Ding, 2015, Discs of mammalian rod photoreceptors form through the membrane evagination mechanism, J. Cell Biol., 211, 495, 10.1083/jcb.201508093 Dona, 2015, NINL and DZANK1 Co-function in vesicle transport and are essential for photoreceptor development in zebrafish, PLoS Genet., 11, e1005574, 10.1371/journal.pgen.1005574 Downs, 2013, Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71, Anim. Genet., 44, 169, 10.1111/j.1365-2052.2012.02379.x Downs, 2016, Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation, Hum. Mol. Genet., 25, 4211, 10.1093/hmg/ddw254 Doxsey, 1994, Pericentrin, a highly conserved centrosome protein involved in microtubule organization, Cell, 76, 639, 10.1016/0092-8674(94)90504-5 Drivas, 2014, CEP290 and the primary cilium, Adv. Exp. Med. Biol., 801, 519, 10.1007/978-1-4614-3209-8_66 Drivas, 2013, Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration, J. Clin. Invest., 123, 4525, 10.1172/JCI69448 Dryja, 2001, Null RPGRIP1 alleles in patients with Leber congenital amaurosis, Am. J. Hum. Genet., 68, 1295, 10.1086/320113 Duldulao, 2009, Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion, Development, 136, 4033, 10.1242/dev.036350 Dutcher, 2002, Epsilon-tubulin is an essential component of the centriole, Mol. Biol. Cell, 13, 3859, 10.1091/mbc.e02-04-0205 Dyson, 2017, INPP5E regulates phosphoinositide-dependent cilia transition zone function, J. Cell Biol., 216, 247, 10.1083/jcb.201511055 Eblimit, 2015, Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina, Hum. Mol. Genet., 24, 1584, 10.1093/hmg/ddu573 Eckmiller, 1998, Association of kinesin with microtubules in diverse cytoskeletal systems in the outer segments of rods and cones, Acta Anat., 162, 133, 10.1159/000046478 Endoh-Yamagami, 2010, A mutation in the pericentrin gene causes abnormal interneuron migration to the olfactory bulb in mice, Dev. Biol., 340, 41, 10.1016/j.ydbio.2010.01.017 Errabolu, 1994, Cloning of a cDNA encoding human centrin, an EF-hand protein of centrosomes and mitotic spindle poles, J. Cell Sci., 107, 9, 10.1242/jcs.107.1.9 Escalier, 2006, Knockout mouse models of sperm flagellum anomalies, Hum. Reprod. Update, 12, 449, 10.1093/humupd/dml013 Estrada-Cuzcano, 2011, IQCB1 mutations in patients with leber congenital amaurosis, Invest. Ophthalmol. Vis. Sci., 52, 834, 10.1167/iovs.10-5221 Estrada-Cuzcano, 2012, Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement, Am. J. Hum. Genet., 90, 102, 10.1016/j.ajhg.2011.11.015 Failler, 2014, Mutations of CEP83 cause infantile nephronophthisis and intellectual disability, Am. J. Hum. Genet., 94, 905, 10.1016/j.ajhg.2014.05.002 Falk, 2018, Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis, J. Cell Sci., 131, 10.1242/jcs.218487 Fan, 2004, Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome, Nat. Genet., 36, 989, 10.1038/ng1414 Finn, 2016, The Pfam protein families database: towards a more sustainable future, Nucleic Acids Res., 44, D279, 10.1093/nar/gkv1344 Firat-Karalar, 2014, Proximity interactions among centrosome components identify regulators of centriole duplication, Curr. Biol., 24, 664, 10.1016/j.cub.2014.01.067 Fliegauf, 2006, Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia, J. Am. Soc. Nephrol., 17, 2424, 10.1681/ASN.2005121351 Forsythe, 2013, Bardet-Biedl syndrome, Eur. J. Hum. Genet., 21, 8, 10.1038/ejhg.2012.115 Friedberg, 2006, Centrin isoforms in mammals. Relation to calmodulin, Mol. Biol. Rep., 33, 243, 10.1007/s11033-006-9004-z Fu, 2007, Phototransduction in mouse rods and cones, Pflugers Arch, 10.1007/s00424-006-0194-y Garanto, 2016, In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery, Hum. Mol. Genet., 25, 2552 Garanto, 2013, Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis, PLoS One, 8, 10.1371/journal.pone.0079369 Garcia, 2016, A primer on the mouse basal body, Cilia, 5, 17, 10.1186/s13630-016-0038-0 Gavet, 2003, Centrin4p, a novel mammalian centrin specifically expressed in ciliated cells, Mol. Biol. Cell, 14, 1818, 10.1091/mbc.e02-11-0709 Geimer, 2005, Centrin scaffold in Chlamydomonas reinhardtii revealed by immunoelectron microscopy, Eukaryot. Cell, 4, 1253, 10.1128/EC.4.7.1253-1263.2005 Geister, 2015, LINE-1 mediated insertion into Poc1a (protein of centriole 1 A) causes growth insufficiency and male infertility in mice, PLoS Genet., 11, e1005569, 10.1371/journal.pgen.1005569 Gerner, 2010, The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network, Kidney Int., 77, 891, 10.1038/ki.2010.27 Gerth-Kahlert, 2017, C2orf71 mutations as a frequent cause of autosomal-recessive retinitis pigmentosa: clinical analysis and presentation of 8 novel mutations, Invest. Ophthalmol. Vis. Sci., 58, 3840, 10.1167/iovs.17-21597 Giessl, 2004, Differential expression and interaction with the visual G-protein transducin of centrin isoforms in mammalian photoreceptor cells, J. Biol. Chem., 279, 51472, 10.1074/jbc.M406770200 Giessl, 2006, Centrins, gatekeepers for the light-dependent translocation of transducin through the photoreceptor cell connecting cilium, Vision REs, 46, 4502, 10.1016/j.visres.2006.07.029 Gilliam, 2012, Three-dimensional architecture of the rod sensory cilium and its disruption in retinal neurodegeneration, Cell, 151, 1029, 10.1016/j.cell.2012.10.038 Goetz, 2010, The primary cilium: a signalling centre during vertebrate development, Nat. Rev. Genet., 11, 331, 10.1038/nrg2774 Goldberg, 2016, Molecular basis for photoreceptor outer segment architecture, Prog. Retin. Eye Res., 55, 52, 10.1016/j.preteyeres.2016.05.003 Goldstein, 2013, IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds, Invest. Ophthalmol. Vis. Sci., 54, 7005, 10.1167/iovs.13-12915 Goncalves, 2017, The ciliary transition zone: finding the pieces and assembling the gate, Mol. Cell., 40, 243, 10.14348/molcells.2017.0054 Gorden, 2008, CC2D2A Is mutated in joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290, Am. J. Hum. Genet., 83, 559, 10.1016/j.ajhg.2008.10.002 Gotthardt, 2015, A G-protein activation cascade from Arl13b to Arl3 and implications for ciliary targeting of lipidated proteins, eLife, 4, 10.7554/eLife.11859 Graser, 2007, Cep164, a novel centriole appendage protein required for primary cilium formation, J. Cell Biol., 179, 321, 10.1083/jcb.200707181 Graser, 2007, Cep68 and Cep215 (Cdk5rap2) are required for centrosome cohesion, J. Cell Sci., 120, 4321, 10.1242/jcs.020248 Grayson, 2002, Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3, Hum. Mol. Genet., 11, 3065, 10.1093/hmg/11.24.3065 Gromley, 2003, A novel human protein of the maternal centriole is required for the final stages of cytokinesis and entry into S phase, J. Cell Biol., 161, 535, 10.1083/jcb.200301105 Guarguaglini, 2005, The forkhead-associated domain protein Cep170 interacts with Polo-like kinase 1 and serves as a marker for mature centrioles, Mol. Biol. Cell, 16, 1095, 10.1091/mbc.e04-10-0939 Gupta, 2015, A dynamic protein interaction landscape of the human centrosome-cilium interface, Cell, 163, 1484, 10.1016/j.cell.2015.10.065 Guyon, 2007, Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3, Mol. Vis., 13, 1094 Halbritter, 2013, Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy, Hum. Genet., 132, 865, 10.1007/s00439-013-1297-0 Hames, 2008, Pix1 and Pix2 are novel WD40 microtubule-associated proteins that colocalize with mitochondria in Xenopus germ plasm and centrosomes in human cells, Exp. Cell Res., 314, 574, 10.1016/j.yexcr.2007.10.019 Hanke-Gogokhia, 2018, Rescue of cone function in 'cone-only' Nphp5 knockout mouse model with Leber congenital amaurosis phenotype, Mol. Vis. Hanke-Gogokhia, 2016, Arf-like protein 3 (ARL3) regulates protein trafficking and ciliogenesis in mouse photoreceptors, J. Biol. Chem., 291, 7142, 10.1074/jbc.M115.710954 Hanke-Gogokhia, 2017, The guanine nucleotide exchange factor, Arf-like protein 13b, is essential for assembly of the mouse photoreceptor transition zone and outer segment, J. Biol. Chem., 292, 21442, 10.1074/jbc.RA117.000141 Hanzal-Bayer, 2002, The complex of Arl2-GTP and PDE delta: from structure to function, EMBO J., 21, 2095, 10.1093/emboj/21.9.2095 Hart, 1999, Testis-specific murine centrin, Cetn1: genomic characterization and evidence for retroposition of a gene encoding a centrosome protein, Genomics, 60, 111, 10.1006/geno.1999.5880 Hart, 2001, Characterization of the X-linked murine centrin Cetn2 gene, Gene, 264, 205, 10.1016/S0378-1119(01)00342-0 Hartman, 2002, The origin of the eukaryotic cell: a genomic investigation, Proc. Natl. Acad. Sci. U. S. A, 99, 1420, 10.1073/pnas.032658599 Hartong, 2006, Retinitis pigmentosa, Lancet, 368, 1795, 10.1016/S0140-6736(06)69740-7 Helou, 2007, Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome, J. Med. Genet., 44, 657, 10.1136/jmg.2007.052027 Heon, 2016, Mutations in C8ORF37 cause Bardet biedl syndrome (BBS21), Hum. Mol. Genet., 25, 2283, 10.1093/hmg/ddw096 Higginbotham, 2004, Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cells, Transgenic Res., 13, 155, 10.1023/B:TRAG.0000026071.41735.8e Higginbotham, 2013, Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation, Nat. Neurosci., 16, 1000, 10.1038/nn.3451 Hildebrandt, 1997, A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1, Nat. Genet., 17, 149, 10.1038/ng1097-149 Hong, 2000, A retinitis pigmentosa GTPase regulator (RPGR)- deficient mouse model for X-linked retinitis pigmentosa (RP3) [In Process Citation], Proc. Natl. Acad. Sci. U. S. A, 97, 3649, 10.1073/pnas.97.7.3649 Hoon, 2014, Functional architecture of the retina: development and disease, Prog. Retin. Eye Res., 42, 44, 10.1016/j.preteyeres.2014.06.003 Hoover, 2008, C2cd3 is required for cilia formation and Hedgehog signaling in mouse, Development, 135, 4049, 10.1242/dev.029835 Hori, 2017, Regulation of centriolar satellite integrity and its physiology, Cell. Mol. Life Sci., 74, 213, 10.1007/s00018-016-2315-x Hoyer-Fender, 2010, Centriole maturation and transformation to basal body, Semin. Cell Dev. Biol., 21, 142, 10.1016/j.semcdb.2009.07.002 Hsiao, 2009, Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking, Hum. Mol. Genet., 18, 3926, 10.1093/hmg/ddp335 Hu, 2016, Isoforms, structures, and functions of versatile spectraplakin MACF1, BMB. Rep., 49, 37, 10.5483/BMBRep.2016.49.1.185 Hu, 2017, MACF1, versatility in tissue-specific function and in human disease, Semin. Cell Dev. Biol., 69, 3, 10.1016/j.semcdb.2017.05.017 Huang, 2017, Hierarchical assembly of centriole subdistal appendages via centrosome binding proteins CCDC120 and CCDC68, Nat. Commun., 8, 15057, 10.1038/ncomms15057 Huang, 2012, RPGR-associated retinal degeneration in human X-linked RP and a murine model, Invest. Ophthalmol. Vis. Sci., 53, 5594, 10.1167/iovs.12-10070 Humbert, 2012, ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting, Proc. Natl. Acad. Sci. U. S. A, 109, 19691, 10.1073/pnas.1210916109 Hynes, 2014, Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis, Proc. Natl. Acad. Sci. U. S. A, 111, 9893, 10.1073/pnas.1322373111 Insinna, 2009, Analysis of IFT kinesins in developing zebrafish cone photoreceptor sensory cilia, Methods Cell Biol., 93, 219, 10.1016/S0091-679X(08)93012-0 Insolera, 2014, SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex, Neuron, 83, 805, 10.1016/j.neuron.2014.06.029 Ishikawa, 2005, Odf2-deficient mother centrioles lack distal/subdistal appendages and the ability to generate primary cilia, Nat. Cell Biol., 7, 517, 10.1038/ncb1251 Ismail, 2012, Structural basis for Arl3-specific release of myristoylated ciliary cargo from UNC119, EMBO J., 31, 4085, 10.1038/emboj.2012.257 Ismail, 2011, Arl2-GTP and Arl3-GTP regulate a GDI-like transport system for farnesylated cargo, Nat. Chem. Biol., 7, 942, 10.1038/nchembio.686 Ivanova, 2017, Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase and ARL3 guanine nucleotide exchange factor (GEF), J. Biol. Chem., 292, 11091, 10.1074/jbc.M117.784025 Jacoby, 2009, INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse, Nat. Genet., 41, 1027, 10.1038/ng.427 Jakobsen, 2011, Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods, EMBO J., 30, 1520, 10.1038/emboj.2011.63 Jiang, 2015, Kinesin family 17 (osmotic avoidance abnormal-3) is dispensable for photoreceptor morphology and function, Faseb. J., 29, 4866, 10.1096/fj.15-275677 Jiang, 2015, Heterotrimeric kinesin-2 (KIF3) mediates transition zone and axoneme formation of mouse photoreceptors, J. Biol. Chem., 290, 12765, 10.1074/jbc.M115.638437 Jiang, 2009, Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse, Hum. Mol. Genet., 18, 1566, 10.1093/hmg/ddp068 Jiang, 2008, Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice, Hum. Mol. Genet., 17, 3368, 10.1093/hmg/ddn231 Jimeno, 2006, Kinesin-2 and photoreceptor cell death: requirement of motor subunits, Exp. Eye Res., 82, 351, 10.1016/j.exer.2005.10.026 Joiner, 2015, Primary cilia on horizontal basal cells regulate regeneration of the olfactory epithelium, J. Neurosci., 35, 13761, 10.1523/JNEUROSCI.1708-15.2015 Joo, 2013, CCDC41 is required for ciliary vesicle docking to the mother centriole, Proc. Natl. Acad. Sci. U. S. A, 110, 5987, 10.1073/pnas.1220927110 Jurczyk, 2004, Pericentrin forms a complex with intraflagellar transport proteins and polycystin-2 and is required for primary cilia assembly, J. Cell Biol., 166, 637, 10.1083/jcb.200405023 Juric-Sekhar, 2012, Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia, Acta Neuropathol., 123, 695, 10.1007/s00401-012-0951-2 Karlstetter, 2014, Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration, Hum. Mol. Genet., 23, 5197, 10.1093/hmg/ddu242 Kaupp, 2010, Olfactory signalling in vertebrates and insects: differences and commonalities, Nat. Rev. Neurosci., 11, 188, 10.1038/nrn2789 Keller, 2009, Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control, Mol. Biol. Cell, 20, 1150, 10.1091/mbc.e08-06-0619 Kenedy, 2003, Identification and characterization of the novel centrosome-associated protein CCCAP, Gene, 303, 35, 10.1016/S0378-1119(02)01141-1 Kevany, 2015, Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration, Hum. Mol. Genet., 24, 2627, 10.1093/hmg/ddv025 Kim, 2008, CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium, Hum. Mol. Genet., 17, 3796, 10.1093/hmg/ddn277 Kim, 2017, Crystal structure of wild-type centrin 1 from Mus musculus occupied by Ca2, Biochemistry, 82, 1129 Kim, 2013, Localization of primary cilia in mouse retina, Acta Histochem., 115, 789, 10.1016/j.acthis.2013.03.005 Kobayashi, 2003, Photoreceptor synaptic protein HRG4 (UNC119) interacts with ARL2 via a putative conserved domain, FEBS Lett., 534, 26, 10.1016/S0014-5793(02)03766-3 Kobayashi, 2014, The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly, J. Cell Biol., 204, 215, 10.1083/jcb.201304153 Kobayashi, 2011, Centriolar kinesin Kif24 interacts with CP110 to remodel microtubules and regulate ciliogenesis, Cell, 145, 914, 10.1016/j.cell.2011.04.028 Kodani, 2013, Kif3a interacts with Dynactin subunit p150 Glued to organize centriole subdistal appendages, EMBO J., 32, 597, 10.1038/emboj.2013.3 Kondo, 1994, KIF3A is a new microtubule-based anterograde motor in the nerve axon, J. Cell Biol., 125, 1095, 10.1083/jcb.125.5.1095 Kong, 2000, Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi network, J. Biol. Chem., 275, 24052, 10.1074/jbc.M000874200 Kosling, 2018, Mechanism and dynamics of INPP5E transport into and inside the ciliary compartment, Biol. Chem., 399, 277, 10.1515/hsz-2017-0226 Kozminski, 1998, Three flagellar motilities in Chlamydomonas unrelated to flagellar beating. Video supplement, Cell Motil. Cytoskelet., 39, 347 Kubo, 1999, Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis, J. Cell Biol., 147, 969, 10.1083/jcb.147.5.969 Kubo, 2003, Non-membranous granular organelle consisting of PCM-1: subcellular distribution and cell-cycle-dependent assembly/disassembly, J. Cell Sci., 116, 919, 10.1242/jcs.00282 Kumar, 2013, CEP proteins: the knights of centrosome dynasty, Protoplasma, 250, 965, 10.1007/s00709-013-0488-9 Kunimoto, 2012, Coordinated ciliary beating requires Odf2-mediated polarization of basal bodies via basal feet, Cell, 148, 189, 10.1016/j.cell.2011.10.052 Langmann, 2008, CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene, Nucleic Acids Res., 36, 6523, 10.1093/nar/gkn737 Laoukili, 2000, Differential expression and cellular distribution of centrin isoforms during human ciliated cell differentiation in vitro, J. Cell Sci., 113, 1355, 10.1242/jcs.113.8.1355 Lau, 2012, STED microscopy with optimized labeling density reveals 9-fold arrangement of a centriole protein, Biophys. J., 102, 2926, 10.1016/j.bpj.2012.05.015 Lehti, 2013, KIF3A is essential for sperm tail formation and manchette function, Mol. Cell. Endocrinol., 377, 44, 10.1016/j.mce.2013.06.030 Lessieur, 2017, The ciliopathy gene ahi1 is required for zebrafish cone photoreceptor outer segment morphogenesis and survival, Invest. Ophthalmol. Vis. Sci., 58, 448, 10.1167/iovs.16-20326 Lewis, 2017, Cos2/Kif7 and Osm-3/Kif17 regulate onset of outer segment development in zebrafish photoreceptors through distinct mechanisms, Dev. Biol., 425, 176, 10.1016/j.ydbio.2017.03.019 Li, 2016, MKS5 and CEP290 dependent assembly pathway of the ciliary transition zone, PLoS Biol., 14, e1002416, 10.1371/journal.pbio.1002416 Li, 2011, The role of centrosomal Nlp in the control of mitotic progression and tumourigenesis, Br. J. Canc., 104, 1523, 10.1038/bjc.2011.130 Li, 2012, Three-dimensional structure of basal body triplet revealed by electron cryo-tomography, EMBO J., 31, 552, 10.1038/emboj.2011.460 Li, 2016, Deletion of ADP ribosylation factor-like GTPase 13B leads to kidney cysts, J. Am. Soc. Nephrol., 27, 3628, 10.1681/ASN.2015091004 Li, 2010, The small GTPases ARL-13 and ARL-3 coordinate intraflagellar transport and ciliogenesis, J. Cell Biol., 189, 1039, 10.1083/jcb.200912001 Lin, 2003, Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease, Proc. Natl. Acad. Sci. U. S. A., 100, 5286, 10.1073/pnas.0836980100 Linari, 1999, The delta subunit of rod specific cyclic GMP phosphodiesterase, PDE delta, interacts with the Arf-like protein Arl3 in a GTP specific manner, FEBS Lett., 458, 55, 10.1016/S0014-5793(99)01117-5 Liu, 2005, CAP-1A is a novel linker that binds clathrin and the voltage-gated sodium channel Na(v)1.8, Mol. Cell. Neurosci., 28, 636, 10.1016/j.mcn.2004.11.007 Liu, 2007, The proteome of the mouse photoreceptor sensory cilium complex, Mol. Cell. Proteomics, 6, 1299, 10.1074/mcp.M700054-MCP200 Liu, 2004, The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein, J. Neurosci., 24, 6427, 10.1523/JNEUROSCI.1335-04.2004 Lizarraga, 2010, Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors, Development, 137, 1907, 10.1242/dev.040410 Loktev, 2008, A BBSome subunit links ciliogenesis, microtubule stability, and acetylation, Dev. Cell, 15, 854, 10.1016/j.devcel.2008.11.001 Louie, 2010, AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis, Nat. Genet., 42, 175, 10.1038/ng.519 Luby-Phelps, 2008, Spatial distribution of intraflagellar transport proteins in vertebrate photoreceptors, Vision REs, 48, 413, 10.1016/j.visres.2007.08.022 Luders, 2012, The amorphous pericentriolar cloud takes shape, Nat. Cell Biol., 14, 1126, 10.1038/ncb2617 Malicki, 2014, From the cytoplasm into the cilium: bon voyage, Organogenesis, 10, 138, 10.4161/org.29055 Malicki, 2012, Kinesin-2 family motors in the unusual photoreceptor cilium, Vision REs, 75, 33, 10.1016/j.visres.2012.10.008 Marszalek, 2000, Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors, Cell, 102, 175, 10.1016/S0092-8674(00)00023-4 Marszalek, 1999, Situs inversus and embryonic ciliary morphogenesis defects in mouse mutants lacking the KIF3A subunit of kinesin-II, Proc. Natl. Acad. Sci. U. S. A., 96, 5043, 10.1073/pnas.96.9.5043 Martinez-Sanz, 2006, Binding of human centrin 2 to the centrosomal protein hSfi1, FEBS J., 273, 4504, 10.1111/j.1742-4658.2006.05456.x May-Simera, 2017, Cilia - the sensory antennae in the eye, Prog. Retin. Eye Res., 60, 144, 10.1016/j.preteyeres.2017.05.001 May-Simera, 2016, Loss of MACF1 abolishes ciliogenesis and disrupts apicobasal polarity establishment in the retina, Cell Rep., 17, 1399, 10.1016/j.celrep.2016.09.089 McEwen, 2007, Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons, Proc. Natl. Acad. Sci. U. S. A., 104, 15917, 10.1073/pnas.0704140104 Mears, 2001, Nrl is required for rod photoreceptor development, Nat. Genet., 29, 447, 10.1038/ng774 Megaw, 2015, RPGR: its role in photoreceptor physiology, human disease, and future therapies, Exp. Eye Res., 138, 32, 10.1016/j.exer.2015.06.007 Mellersh, 2006, Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis, Genomics, 88, 293, 10.1016/j.ygeno.2006.05.004 Mennella, 2014, Amorphous no more: subdiffraction view of the pericentriolar material architecture, Trends Cell Biol., 24, 188, 10.1016/j.tcb.2013.10.001 Miao, 2017, Microtubule actin cross-linking factor 1, a novel potential target in cancer, Cancer Sci., 108, 1953, 10.1111/cas.13344 Middendorp, 2000, A role for centrin 3 in centrosome reproduction, J. Cell Biol., 148, 405, 10.1083/jcb.148.3.405 Miura, 2018, Easi-CRISPR for creating knock-in and conditional knockout mouse models using long ssDNA donors, Nat. Protoc., 13, 195, 10.1038/nprot.2017.153 Miyoshi, 2009, Pericentrin, a centrosomal protein related to microcephalic primordial dwarfism, is required for olfactory cilia assembly in mice, Faseb. J., 23, 3289, 10.1096/fj.08-124420 Mockel, 2011, Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies, Prog. Retin. Eye Res., 30, 258, 10.1016/j.preteyeres.2011.03.001 Molday, 2015, Photoreceptors at a glance, J. Cell Sci., 128, 4039, 10.1242/jcs.175687 Monnich, 2018, CEP128 localizes to the subdistal appendages of the mother centriole and regulates TGF-beta/BMP signaling at the primary cilium, Cell Rep., 22, 2584, 10.1016/j.celrep.2018.02.043 Moradi, 2011, Focus on molecules: centrosomal protein 290 (CEP290), Exp. Eye Res., 92, 316, 10.1016/j.exer.2010.05.009 Morris, 1997, Heterotrimeric kinesin-II is required for the assembly of motile 9+2 ciliary axonemes on sea urchin embryos, J. Cell Biol., 138, 1009, 10.1083/jcb.138.5.1009 Morrow, 1998, Vertebrate photoreceptor cell development and disease, Trends Cell Biol., 8, 353, 10.1016/S0962-8924(98)01341-5 Mougou-Zerelli, 2009, CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation, Hum. Mutat., 30, 1574, 10.1002/humu.21116 Muhlhans, 2011, The centrosomal protein pericentrin identified at the basal body complex of the connecting cilium in mouse photoreceptors, PLoS One, 6, 10.1371/journal.pone.0026496 Muhlhans, 2012, Pericentrin in health and disease: exploring the patchwork of Pericentrin splice variants, Commun. Integr. Biol., 5, 304, 10.4161/cib.20363 Murga-Zamalloa, 2010, Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas, Mol. Vis., 16, 1373 Murga-Zamalloa, 2009, RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction, J. Genet., 88, 399, 10.1007/s12041-009-0061-7 Nachury, 2007, A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis, Cell, 129, 1201, 10.1016/j.cell.2007.03.053 Nachury, 2010, Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier?, Annu. Rev. Cell Dev. Biol., 26, 59, 10.1146/annurev.cellbio.042308.113337 Nguyen, 2017, Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa, J. Med. Genet., 54, 624, 10.1136/jmedgenet-2016-104200 Nickell, 2007, Three-dimensional architecture of murine rod outer segments determined by cryoelectron tomography, J. Cell Biol., 177, 917, 10.1083/jcb.200612010 Nigg, 2018, Once and only once: mechanisms of centriole duplication and their deregulation in disease, Nat. Rev. Mol. Cell Biol., 19, 297, 10.1038/nrm.2017.127 Nishimura, 2010, Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71, Am. J. Hum. Genet., 86, 686, 10.1016/j.ajhg.2010.03.005 Noor, 2008, CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa, Am. J. Hum. Genet., 82, 1011, 10.1016/j.ajhg.2008.01.021 Norris, 2012, Mouse models of ciliopathies: the state of the art, Dis. Model. Mech., 5, 299, 10.1242/dmm.009340 Nozaki, 2017, Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E, J. Cell Sci., 130, 563, 10.1242/jcs.197004 Ojeda Naharros, 2017, Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors, PLoS Genet., 13, e1007150, 10.1371/journal.pgen.1007150 Otto, 2010, Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy, Nat. Genet., 42, 840, 10.1038/ng.662 Otto, 2005, Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin, Nat. Genet., 37, 282, 10.1038/ng1520 Pagan, 2015, Degradation of Cep68 and PCNT cleavage mediate Cep215 removal from the PCM to allow centriole separation, disengagement and licensing, Nat. Cell Biol., 17, 31, 10.1038/ncb3076 Pan, 2006, Mechanism of transport of IFT particles in C. elegans cilia by the concerted action of kinesin-II and OSM-3 motors, J. Cell Biol., 174, 1035, 10.1083/jcb.200606003 Parfitt, 2016, Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies, Biochem. Soc. Trans., 44, 1245, 10.1042/BST20160156 Paridaen, 2013, Asymmetric inheritance of centrosome-associated primary cilium membrane directs ciliogenesis after cell division, Cell, 155, 333, 10.1016/j.cell.2013.08.060 Patil, 2012, Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons, Cell Death Dis., 3, e355, 10.1038/cddis.2012.96 Pawlyk, 2010, Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis, Hum. Gene Ther., 21, 993, 10.1089/hum.2009.218 Pawlyk, 2005, Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP, Invest. Ophthalmol. Vis. Sci., 46, 3039, 10.1167/iovs.05-0371 Pazour, 2002, The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance, J. Cell Biol., 157, 103, 10.1083/jcb.200107108 Pearring, 2013, Protein sorting, targeting and trafficking in photoreceptor cells, Prog. Retin. Eye Res., 36, 24, 10.1016/j.preteyeres.2013.03.002 Pearson, 2009, Basal body assembly in ciliates: the power of numbers, Traffic, 10, 461, 10.1111/j.1600-0854.2009.00885.x Peet, 2004, Quantification of the cytoplasmic spaces of living cells with EGFP reveals arrestin-EGFP to be in disequilibrium in dark adapted rod photoreceptors, J. Cell Sci., 117, 3049, 10.1242/jcs.01167 Perrault, 2010, Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype, Hum. Mutat., 31, E1241, 10.1002/humu.21203 Phua, 2017, Dynamic remodeling of membrane composition drives cell cycle through primary cilia excision, Cell, 168, 264, 10.1016/j.cell.2016.12.032 Pinheiro, 2016, C2-domain containing calcium sensors in neuroendocrine secretion, J. Neurochem., 139, 943, 10.1111/jnc.13865 Poirier, 2013, Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly, Nat. Genet., 45, 639, 10.1038/ng.2613 Pooranachandran, 2016, Unexpected roles for ciliary kinesins and intraflagellar transport proteins, Genetics, 203, 771, 10.1534/genetics.115.180943 Portran, 2017, Tubulin acetylation protects long-lived microtubules against mechanical ageing, Nat. Cell Biol., 19, 391, 10.1038/ncb3481 Praetorius, 2003, The renal cell primary cilium functions as a flow sensor, Curr. Opin. Nephrol. Hypertens., 12, 517, 10.1097/00041552-200309000-00006 Prosser, 2015, Centrin2 regulates CP110 removal in primary cilium formation, J. Cell Biol., 208, 693, 10.1083/jcb.201411070 Qiu, 2012, Disruption of Kif3a in osteoblasts results in defective bone formation and osteopenia, J. Cell Sci., 125, 1945, 10.1242/jcs.095893 Quadros, 2017, Easi-CRISPR: a robust method for one-step generation of mice carrying conditional and insertion alleles using long ssDNA donors and CRISPR ribonucleoproteins, Genome Biol., 18, 92, 10.1186/s13059-017-1220-4 Rachel, 2012, Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins, Cilia, 1, 22, 10.1186/2046-2530-1-22 Rachel, 2015, CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies, Hum. Mol. Genet., 24, 3775, 10.1093/hmg/ddv123 Raghupathy, 2017, Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish, Sci. Rep., 7, 16881, 10.1038/s41598-017-12838-x Rao, 2015, Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition, Sci. Rep., 5, 11137, 10.1038/srep11137 Rauch, 2008, Mutations in the pericentrin (PCNT) gene cause primordial dwarfism, Science, 319, 816, 10.1126/science.1151174 Remans, 2014, C2 domains as protein-protein interaction modules in the ciliary transition zone, Cell Rep., 8, 1, 10.1016/j.celrep.2014.05.049 Renault, 2001, Coexpression, copurification, crystallization and preliminary X-ray analysis of a complex of ARL2-GTP and PDE delta, Acta Crystallogr. D. Biol. Crystallogr., 57, 1167, 10.1107/S0907444901009556 Roehlich, 1975, The sensory cilium of retinal rods is analogous to the transitional zone of motile cilia, Cell Tissue Res., 161, 421 Roepman, 2000, The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors, Hum. Mol. Genet., 9, 2095, 10.1093/hmg/9.14.2095 Roepman, 2005, Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations, Proc. Natl. Acad. Sci. U. S. A, 102, 18520, 10.1073/pnas.0505774102 Ronquillo, 2012, Senior-Loken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis, Vision REs, 75, 88, 10.1016/j.visres.2012.07.003 Ronquillo, 2016, Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation, Faseb. J., 30, 3400, 10.1096/fj.201600511R Roosing, 2014, Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy, Am. J. Hum. Genet., 95, 131, 10.1016/j.ajhg.2014.06.012 Rosenbaum, 2002, Intraflagellar transport, Nat. Rev. Mol. Cell Biol., 3, 813, 10.1038/nrm952 Roy, 2017, Palmitoylation of the ciliary GTPase Arl13b is necessary for its stability and its role in cilia formation, J. Biol. Chem., 292, 17703, 10.1074/jbc.M117.792937 Salisbury, 1995, Centrin, centrosomes, and mitotic spindle poles, Curr. Opin. Cell Biol., 7, 39, 10.1016/0955-0674(95)80043-3 Salisbury, 2002, Centrin-2 is required for centriole duplication in mammalian cells, Curr. Biol., 12, 1287, 10.1016/S0960-9822(02)01019-9 Salmon, 2006, A gene trap knockout of the abundant sperm tail protein, outer dense fiber 2, results in preimplantation lethality, Genesis, 44, 515, 10.1002/dvg.20241 Sang, 2011, Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways, Cell, 145, 513, 10.1016/j.cell.2011.04.019 Sarig, 2012, Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation, Am. J. Hum. Genet., 91, 337, 10.1016/j.ajhg.2012.06.003 Satir, 2007, Overview of structure and function of mammalian cilia, Annu. Rev. Physiol., 69, 377, 10.1146/annurev.physiol.69.040705.141236 Satir, 2008, How did the cilium evolve?, Curr. Top. Dev. Biol., 85, 63, 10.1016/S0070-2153(08)00803-X Satir, 2010, The primary cilium at a glance, J. Cell Sci., 123, 499, 10.1242/jcs.050377 Sawant, 2015, Centrin 3 is an inhibitor of centrosomal Mps1 and antagonizes centrin 2 function, Mol. Biol. Cell, 26, 3741, 10.1091/mbc.E14-07-1248 Sayer, 2006, The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4, Nat. Genet., 38, 674, 10.1038/ng1786 Schaefer, 2011, Mutations in SDCCAG8/NPHP10 cause bardet-biedl syndrome and are associated with penetrant renal disease and absent polydactyly, Mol. Syndromol., 1, 273, 10.1159/000331268 Schafer, 2008, Genetic and physical interaction between the NPHP5 and NPHP6 gene products, Hum. Mol. Genet., 17, 3655, 10.1093/hmg/ddn260 Schmidt, 2012, Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis, J. Cell Biol., 199, 1083, 10.1083/jcb.201202126 Schmidt, 2000, A novel protein (Fbf-1) that binds to CD95/APO-1/FAS and shows sequence similarity to trichohyalin and plectin, Biochim. Biophys. Acta, 1493, 249, 10.1016/S0167-4781(00)00163-9 Scholey, 2008, Intraflagellar transport motors in cilia: moving along the cell's antenna, J. Cell Biol., 180, 23, 10.1083/jcb.200709133 Scholey, 2013, Cilium assembly: delivery of tubulin by kinesin-2-powered trains, Curr. Biol., 23, R956, 10.1016/j.cub.2013.09.032 Schrick, 2006, ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development, Am. J. Pathol., 168, 1288, 10.2353/ajpath.2006.050941 Schwarz, 2012, Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins, Vis. Res., 75, 2, 10.1016/j.visres.2012.07.016 Schweizer, 2009, Mouse Odf2 localizes to centrosomes and basal bodies in adult tissues and to the photoreceptor primary cilium, Cell Tissue Res., 338, 295, 10.1007/s00441-009-0861-3 Sedmak, 2011, Intraflagellar transport proteins in ciliogenesis of photoreceptor cells, Biol. Cell, 103, 449, 10.1042/BC20110034 Seixas, 2016, Arl13b and the exocyst interact synergistically in ciliogenesis, Mol. Biol. Cell, 27, 308, 10.1091/mbc.e15-02-0061 Shaheen, 2012, POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism, Am. J. Hum. Genet., 91, 330, 10.1016/j.ajhg.2012.05.025 Sharif, 2018, C8ORF37 is required for photoreceptor outer segment disc morphogenesis by maintaining outer segment membrane protein homeostasis, J. Neurosci., 38, 3160, 10.1523/JNEUROSCI.2964-17.2018 Shi, 2017, Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome, Nat. Cell Biol., 19, 1178, 10.1038/ncb3599 Shu, 2007, RPGR mutation analysis and disease: an update, Hum. Mutat., 28, 322, 10.1002/humu.20461 Signor, 1999, Two heteromeric kinesin complexes in chemosensory neurons and sensory cilia of Caenorhabditis elegans, Mol. Biol. Cell, 10, 345, 10.1091/mbc.10.2.345 Siller, 2017, Conditional knockout mice for the distal appendage protein CEP164 reveal its essential roles in airway multiciliated cell differentiation, PLoS Genet., 13, e1007128, 10.1371/journal.pgen.1007128 Sillibourne, 2013, Primary ciliogenesis requires the distal appendage component Cep123, Biol. Open., 2, 535, 10.1242/bio.20134457 Singla, 2006, The primary cilium as the cell's antenna: signaling at a sensory organelle, Science, 313, 629, 10.1126/science.1124534 Slaats, 2014, Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition, PLoS Genet., 10, e1004594, 10.1371/journal.pgen.1004594 Slepak, 2008, Mechanism of light-induced translocation of arrestin and transducin in photoreceptors: interaction-restricted diffusion, IUBMB Life, 60, 2, 10.1002/iub.7 Smrzka, 2000, Tissue-specific expression and subcellular localisation of mammalian delta-tubulin, Curr. Biol., 10, 413, 10.1016/S0960-9822(00)00418-8 Song, 2016, Arl13b interacts with Vangl2 to regulate cilia and photoreceptor outer segment length in zebrafish, Invest. Ophthalmol. Vis. Sci., 57, 4517, 10.1167/iovs.16-19898 Sonnen, 2012, 3D-structured illumination microscopy provides novel insight into architecture of human centrosomes, Biol. Open., 1, 965, 10.1242/bio.20122337 Sorokin, 1962, Centrioles and the formation of rudimentary cilia by fibroblasts and smooth muscle cells, J. Cell Biol., 15, 363, 10.1083/jcb.15.2.363 Sorokin, 1968, Reconstructions of centriole formation and ciliogenesis in mammalian lungs, J. Cell Sci., 3, 207, 10.1242/jcs.3.2.207 Spektor, 2007, Cep97 and CP110 suppress a cilia assembly program, Cell, 130, 678, 10.1016/j.cell.2007.06.027 Stone, 2011, Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome, Arch. Ophthalmol., 129, 81, 10.1001/archophthalmol.2010.330 Sudhof, 1996, Synaptotagmins: C2-domain proteins that regulate membrane traffic, Neuron, 17, 379, 10.1016/S0896-6273(00)80171-3 Sukumaran, 2017, Whole transcriptome profiling of taste bud cells, Sci. Rep., 7, 7595, 10.1038/s41598-017-07746-z Sun, 2017, Centriolin, a centriole-appendage protein, regulates peripheral spindle migration and asymmetric division in mouse meiotic oocytes, Cell Cycle, 16, 1774, 10.1080/15384101.2016.1264544 Sun, 2004, A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney, Development, 131, 4085, 10.1242/dev.01240 Sung, 2010, The cell biology of vision, J. Cell Biol., 190, 953, 10.1083/jcb.201006020 Swaroop, 2010, Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina, Nat. Rev. Neurosci., 11, 563, 10.1038/nrn2880 Tabish, 1995, Exclusive expression of C. elegans osm-3 kinesin gene in chemosensory neurons open to the external environment, J. Mol. Biol., 247, 377, 10.1006/jmbi.1994.0146 Takeda, 1999, Left-right asymmetry and kinesin superfamily protein KIF3A: new insights in determination of laterality and mesoderm induction by kif3A-/- mice analysis, J. Cell Biol., 145, 825, 10.1083/jcb.145.4.825 Tallila, 2008, Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle, Am. J. Hum. Genet., 82, 1361, 10.1016/j.ajhg.2008.05.004 Tanos, 2013, Centriole distal appendages promote membrane docking, leading to cilia initiation, Genes Dev., 27, 163, 10.1101/gad.207043.112 Temiyasathit, 2012, Mechanosensing by the primary cilium: deletion of Kif3A reduces bone formation due to loading, PLoS One, 7, 10.1371/journal.pone.0033368 Thauvin-Robinet, 2014, The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation, Nat. Genet., 46, 905, 10.1038/ng.3031 Thomas, 2015, Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity, Eur. J. Hum. Genet., 23, 621, 10.1038/ejhg.2014.156 Thomas, 2014, A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium, Hum. Mutat., 35, 137, 10.1002/humu.22470 Thompson, 2012, Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15, PLoS One, 7, 10.1371/journal.pone.0035865 Tian, 2014, An unconventional secretory pathway mediates the cilia targeting of peripherin/rds, J. Neurosci., 34, 992, 10.1523/JNEUROSCI.3437-13.2014 Tollenaere, 2015, Centriolar satellites: key mediators of centrosome functions, Cell. Mol. Life Sci., 72, 11, 10.1007/s00018-014-1711-3 Travaglini, 2013, Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders, Eur. J. Hum. Genet., 21, 1074, 10.1038/ejhg.2012.305 Trojan, 2008, Centrins in retinal photoreceptor cells: regulators in the connecting cilium, Prog. Retin. Eye Res., 27, 237, 10.1016/j.preteyeres.2008.01.003 Troutt, 1990, Microtubule nucleation and organization in teleost photoreceptors: microtubule recovery after elimination by cold, J. Neurocytol., 19, 213, 10.1007/BF01217299 Tsang, 2008, CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease, Dev. Cell, 15, 187, 10.1016/j.devcel.2008.07.004 Tsang, 2013, CP110 and its network of partners coordinately regulate cilia assembly, Cilia, 2, 9, 10.1186/2046-2530-2-9 Tsang, 2006, CP110 cooperates with two calcium-binding proteins to regulate cytokinesis and genome stability, Mol. Biol. Cell, 17, 3423, 10.1091/mbc.e06-04-0371 Tuz, 2013, The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions, J. Biol. Chem., 288, 13676, 10.1074/jbc.M112.420786 Uzbekov, 2018, Who are you, subdistal appendages of centriole?, Open. Biol., 8, 10.1098/rsob.180062 Valente, 2006, Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome, Nat. Genet., 38, 623, 10.1038/ng1805 van Huet, 2013, Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene, Invest. Ophthalmol. Vis. Sci., 54, 4683, 10.1167/iovs.12-11439 van Wijk, 2009, Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein, Hum. Mol. Genet., 18, 51, 10.1093/hmg/ddn312 Veleri, 2014, Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis, Nat. Commun., 5, 4207, 10.1038/ncomms5207 Veltel, 2008, The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3, Nat. Struct. Mol. Biol., 15, 373, 10.1038/nsmb.1396 Vlijm, 2018, STED nanoscopy of the centrosome linker reveals a CEP68-organized, periodic rootletin network anchored to a C-Nap1 ring at centrioles, Proc. Natl. Acad. Sci. U. S. A, 115, E2246, 10.1073/pnas.1716840115 Wang, 2009, Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa, Am. J. Hum. Genet., 84, 380, 10.1016/j.ajhg.2009.02.005 Wang, 2017, Genetic variants of microtubule actin cross-linking factor 1 (MACF1) confer risk for Parkinson's disease, Mol. Neurobiol., 54, 2878, 10.1007/s12035-016-9861-y Wang, 2009, Asymmetric centrosome inheritance maintains neural progenitors in the neocortex, Nature, 461, 947, 10.1038/nature08435 Watzlich, 2013, The interplay between RPGR, PDEdelta and Arl2/3 regulate the ciliary targeting of farnesylated cargo, EMBO Rep., 14, 465, 10.1038/embor.2013.37 Wei, 2013, Transition fibre protein FBF1 is required for the ciliary entry of assembled intraflagellar transport complexes, Nat. Commun., 4, 2750, 10.1038/ncomms3750 Weihbrecht, 2018, Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model, PLoS One, 13, e0192755, 10.1371/journal.pone.0192755 Wensel, 2016, Structural and molecular bases of rod photoreceptor morphogenesis and disease, Prog. Retin. Eye Res., 55, 32, 10.1016/j.preteyeres.2016.06.002 Werner, 2017, Maintaining centrosomes and cilia, J. Cell Sci., 130, 3789, 10.1242/jcs.203505 Westfall, 2010, Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1. J. Neurosci., 30, 8759, 10.1523/JNEUROSCI.5229-09.2010 Wheway, 2015, An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes, Nat. Cell Biol., 17, 1074, 10.1038/ncb3201 Whitehead, 1999, Photoreceptor localization of the KIF3A and KIF3B subunits of the heterotrimeric microtubule motor kinesin II in vertebrate retina, Exp. Eye Res., 69, 491, 10.1006/exer.1999.0724 Williams, 2011, MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis, J. Cell Biol., 192, 1023, 10.1083/jcb.201012116 Wolf, 2011, Nephronophthisis. Pediatr. Nephrol., 26, 181, 10.1007/s00467-010-1585-z Wolfrum, 2002, Centrins, a novel group of Ca2+-binding proteins in vertebrate photoreceptor cells, Adv. Exp. Med. Biol., 514, 155, 10.1007/978-1-4615-0121-3_10 Wolfrum, 1998, Expression of centrin isoforms in the mammalian retina, Exp. Cell Res., 242, 10, 10.1006/excr.1998.4038 Won, 2009, RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis, Hum. Mol. Genet., 18, 4329, 10.1093/hmg/ddp385 Won, 2011, NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development, Hum. Mol. Genet., 20, 482, 10.1093/hmg/ddq494 Wong-Riley, 2012, The kinesin superfamily protein KIF17: one protein with many functions, Biomol. Concepts, 3, 267, 10.1515/bmc-2011-0064 Wright, 2011, An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium, Genes Dev., 25, 2347, 10.1101/gad.173443.111 Wright, 2016, ARL3 regulates trafficking of prenylated phototransduction proteins to the rod outer segment, Hum. Mol. Genet., 25, 2031, 10.1093/hmg/ddw077 Xu, 2017, Microtubules acquire resistance from mechanical breakage through intralumenal acetylation, Science, 356, 328, 10.1126/science.aai8764 Yadav, 2016, Centrosomal protein CP110 controls maturation of the mother centriole during cilia biogenesis, Development, 143, 1491, 10.1242/dev.130120 Yang, 2006, Rootletin interacts with C-Nap1 and may function as a physical linker between the pair of centrioles/basal bodies in cells, Mol. Biol. Cell, 17, 1033, 10.1091/mbc.e05-10-0943 Yang, 2005, The ciliary rootlet maintains long-term stability of sensory cilia, Mol. Cell Biol., 25, 4129, 10.1128/MCB.25.10.4129-4137.2005 Yang, 2006, Focus on molecules: rootletin, Exp. Eye Res., 83, 1, 10.1016/j.exer.2005.10.013 Yang, 2002, Rootletin, a novel coiled-coil protein, is a structural component of the ciliary rootlet, J. Cell Biol., 159, 431, 10.1083/jcb.200207153 Yang, 2018, Super-resolution architecture of mammalian centriole distal appendages reveals distinct blade and matrix functional components, Nat. Commun., 9, 2023, 10.1038/s41467-018-04469-1 Ye, 2014, C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals, Proc. Natl. Acad. Sci. U. S. A, 111, 2164, 10.1073/pnas.1318737111 Yin, 2011, Molecular motor KIF17 is fundamental for memory and learning via differential support of synaptic NR2A/2B levels, Neuron, 70, 310, 10.1016/j.neuron.2011.02.049 Ying, 2014, Centrin 2 is required for mouse olfactory ciliary trafficking and development of ependymal cilia planar polarity, J. Neurosci., 34, 6377, 10.1523/JNEUROSCI.0067-14.2014 Yuba-Kubo, 2005, Gene knockout analysis of two gamma-tubulin isoforms in mice, Dev. Biol., 282, 361, 10.1016/j.ydbio.2005.03.031 Zach, 2012, The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association, Hum. Mol. Genet., 21, 4573, 10.1093/hmg/dds268 Zhang, 2015, Knockdown of poc1b causes abnormal photoreceptor sensory cilium and vision impairment in zebrafish, Biochem. Biophys. Res. Commun., 465, 651, 10.1016/j.bbrc.2015.06.083 Zhang, 2002, Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration, Hum. Mol. Genet., 11, 993, 10.1093/hmg/11.9.993 Zhang, 2013, Molecular views of Arf-like small GTPases in cilia and ciliopathies, Exp. Cell Res., 319, 2316, 10.1016/j.yexcr.2013.03.024 Zhang, 2018, Gene therapy using a miniCEP290 fragment delays photoreceptor degeneration in a mouse model of leber congenital amaurosis, Hum. Gene Ther., 29, 42, 10.1089/hum.2017.049 Zhang, 2003, A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis, J. Mol. Med., 81, 380, 10.1007/s00109-003-0434-y Zhang, 2011 Zhang, 2010, Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates, Genome Biol., 11, R26, 10.1186/gb-2010-11-3-r26 Zhao, 2011, Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos, EMBO J., 30, 2532, 10.1038/emboj.2011.165 Zhao, 2012, Kinesin-2 family in vertebrate ciliogenesis, Proc. Natl. Acad. Sci. U. S. A, 109, 2388, 10.1073/pnas.1116035109 Zhao, 2003, The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis, Proc. Natl. Acad. Sci. U. S. A, 100, 3965, 10.1073/pnas.0637349100 Zhong, 2015, AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa, Gene Ther., 22, 619, 10.1038/gt.2015.42 Zoubovsky, 2015, Neuroanatomical and behavioral deficits in mice haploinsufficient for Pericentriolar material 1 (Pcm1), Neurosci. Res., 98, 45, 10.1016/j.neures.2015.02.002