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Nat Genet. June 1, 2016; 48 (6): 648-56.

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

Toriyama M , Lee C , Taylor SP , Duran I , Cohn DH , Bruel AL , Tabler JM , Drew K , Kelly MR , Kim S , Park TJ , Braun DA , Pierquin G , Biver A , Wagner K , Malfroot A , Panigrahi I , Franco B , Al-Lami HA , Yeung Y , Choi YJ , , Duffourd Y , Faivre L , Rivière JB , Chen J , Liu KJ , Marcotte EM , Hildebrandt F , Thauvin-Robinet C , Krakow D , Jackson PK , Wallingford JB .

Cilia use microtubule-based intraflagellar transport (IFT) to organize intercellular signaling. Ciliopathies are a spectrum of human diseases resulting from defects in cilia structure or function. The mechanisms regulating the assembly of ciliary multiprotein complexes and the transport of these complexes to the base of cilia remain largely unknown. Combining proteomics, in vivo imaging and genetic analysis of proteins linked to planar cell polarity (Inturned, Fuzzy and Wdpcp), we identified and characterized a new genetic module, which we term CPLANE (ciliogenesis and planar polarity effector), and an extensive associated protein network. CPLANE proteins physically and functionally interact with the poorly understood ciliopathy-associated protein Jbts17 at basal bodies, where they act to recruit a specific subset of IFT-A proteins. In the absence of CPLANE, defective IFT-A particles enter the axoneme and IFT-B trafficking is severely perturbed. Accordingly, mutation of CPLANE genes elicits specific ciliopathy phenotypes in mouse models and is associated with ciliopathies in human patients.

PubMed ID: 27158779
PMC ID: PMC4978421
Article link:

Genes referenced: ahi1 alms1 b9d1 cc2d2a ccp110 cct2 cct3 cct4 cct5 cct6a cct8 cep170 cep192 cep290 cep97 ckap4 cplane1 cplane2 dync1h1 dync1i2 dync1li1 dync1li2 dync2li1 dynll1 dynll2 ehd1 fuz hdac1 hdac2 hdac6 hectd1 herc2 ift122 ift140 ift172 ift43 intu invs kif11 kif23 kif7 mks1 nek1 nek3 nek4 nek8 nek9 nphp1 nphp4 nudc nudcd3 pcm1 rab8a rpgrip1l sept10 sept11 sept2 tcp1 tctn1 tctn2 ttc21b ttc26 tulp3 vax1 wdpcp wdr19 wdr35 nkx2-2 pitx2 tuba4b

Morpholinos referenced: c5orf42 MO1 fuz MO1 intu MO2 rsg1 MO2 wdpcp MO1
Disease Ontology references: ciliopathy [+]


External Resources: GO Terms referenced: intraciliary transport

Article Images: [+] show captions

Adler, 1994, Pubmed [+]

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