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Nat Genet 2016 Jun 01;486:648-56. doi: 10.1038/ng.3558.
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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 , University of Washington Center for Mendelian Genomics , 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: Nat Genet
Grant support: [+]

Species referenced: Xenopus
Genes referenced: ahi1 alms1 b9d1 cc2d2a ccp110 cct2 cct3 cct4 cct5 cct6a cct8 cep164 cep170 cep192 cep290 cep55 cep97 cetn4 cfap20 ckap4 cluap1 cplane1 cplane2 dync1h1 dync1i2 dync1li1 dync1li2 dync2li1 dynll1 dynll2 ehd1 fuz hdac1 hdac2 hdac6 hectd1 herc2 hook2 ift122 ift140 ift172 ift20 ift43 ift56 intu invs kif11 kif23 kif7 mcc mks1 nek1 nek3 nek4 nek8 nek9 nkx2-2 npat nphp1 nphp4 nphp4.2 nudc nudcd3 odc1 ofd1 pcm1 picalm pitx2 rab8a rpgrip1l septin10 septin11 septin2 shh tcp1 tctn1 tctn2 tctn3 tpd52l2 ttc21b tuba4b tulp3 vax1 wdpcp wdr19 wdr35
GO keywords: intraciliary transport
Morpholinos: cplane1 MO1 cplane2l MO2 fuz MO1 intu MO2 wdpcp MO1

Disease Ontology terms: ciliopathy [+]

Article Images: [+] show captions
References [+] :
Adler, The Drosophila tissue polarity gene inturned functions prior to wing hair morphogenesis in the regulation of hair polarity and number. 1994, Pubmed