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• W3208796272 abstract "•The FAM149B1-related XBX-4 DUF3719 protein regulates cilium shape and size •XBX-4 acts upstream of DYF-18 CCRK to regulate DYF-5 RCK kinases •Joubert syndrome-associated mutations in FAM149B1 also disrupt XBX-4 function •Diverse molecules tune the CCRK/RCK module to precisely regulate cilia structure Primary cilia are microtubule (MT)-based organelles that mediate sensory functions in multiple cell types. Disruption of cilia structure or function leads to a diverse collection of diseases termed ciliopathies. 1 Youn Y.H. Han Y.G. Primary cilia in brain development and diseases. Am. J. Pathol. 2018; 188: 11-22 Abstract Full Text Full Text PDF PubMed Scopus (71) Google Scholar , 2 Reiter J.F. Leroux M.R. Genes and molecular pathways underpinning ciliopathies. Nat. Rev. Mol. Cell Biol. 2017; 18: 533-547 Crossref PubMed Scopus (651) Google Scholar , 3 Benmerah A. Durand B. Giles R.H. Harris T. Kohl L. Laclef C. Meilhac S.M. Mitchison H.M. Pedersen L.B. Roepman R. et al. The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies. Cilia. 2015; 4: 5 Crossref PubMed Scopus (6) Google Scholar The highly conserved CCRK and RCK kinases (ICK/MOK/MAK) negatively regulate cilia length and structure in Chlamydomonas, C. elegans, and mammalian cells. 4 Burghoorn J. Dekkers M.P. Rademakers S. de Jong T. Willemsen R. Jansen G. Mutation of the MAP kinase DYF-5 affects docking and undocking of kinesin-2 motors and reduces their speed in the cilia of Caenorhabditis elegans. Proc. Natl. Acad. Sci. USA. 2007; 104: 7157-7162 Crossref PubMed Scopus (87) Google Scholar , 5 Asleson C.M. Lefebvre P.A. Genetic analysis of flagellar length control in Chlamydomonas reinhardtii: a new long-flagella locus and extragenic suppressor mutations. Genetics. 1998; 148: 693-702 Crossref PubMed Google Scholar , 6 Berman S.A. Wilson N.F. Haas N.A. Lefebvre P.A. A novel MAP kinase regulates flagellar length in Chlamydomonas. Curr. Biol. 2003; 13: 1145-1149 Abstract Full Text Full Text PDF PubMed Scopus (149) Google Scholar , 7 Tam L.W. Wilson N.F. Lefebvre P.A. A CDK-related kinase regulates the length and assembly of flagella in Chlamydomonas. J. Cell Biol. 2007; 176: 819-829 Crossref PubMed Scopus (81) Google Scholar , 8 Moon H. Song J. Shin J.O. Lee H. Kim H.K. Eggenschwiller J.T. Bok J. Ko H.W. Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling. Proc. Natl. Acad. Sci. USA. 2014; 111: 8541-8546 Crossref PubMed Scopus (54) Google Scholar , 9 Broekhuis J.R. Verhey K.J. Jansen G. Regulation of cilium length and intraflagellar transport by the RCK-kinases ICK and MOK in renal epithelial cells. PLoS ONE. 2014; 9: e108470 Crossref PubMed Scopus (53) Google Scholar , 10 Maurya A.K. Rogers T. Sengupta P. A CCRK and a MAK kinase modulate cilia branching and length via regulation of axonemal microtubule dynamics in Caenorhabditis elegans. Curr. Biol. 2019; 29: 1286-1300.e4 Abstract Full Text Full Text PDF PubMed Scopus (16) Google Scholar How the activity of this kinase cascade is tuned to precisely regulate cilia architecture is unclear. Mutations in the Domain of Unknown Function 3719 (DUF3719)-containing protein FAM149B1 have recently been shown to elongate cilia via unknown mechanisms and result in the ciliopathy Joubert syndrome. 11 Shaheen R. Jiang N. Alzahrani F. Ewida N. Al-Sheddi T. Alobeid E. Musaev D. Stanley V. Hashem M. Ibrahim N. et al. Bi-allelic mutations in FAM149B1 cause abnormal primary cilium and a range of ciliopathy phenotypes in humans. Am. J. Hum. Genet. 2019; 104: 731-737 Abstract Full Text Full Text PDF PubMed Scopus (15) Google Scholar Here we identify XBX-4, a DUF3719-containing protein related to human FAM149B1, as a regulator of the DYF-18 CCRK and DYF-5 MAK kinase pathway in C. elegans. As in dyf-18 and dyf-5 mutants, 10 Maurya A.K. Rogers T. Sengupta P. A CCRK and a MAK kinase modulate cilia branching and length via regulation of axonemal microtubule dynamics in Caenorhabditis elegans. Curr. Biol. 2019; 29: 1286-1300.e4 Abstract Full Text Full Text PDF PubMed Scopus (16) Google Scholar sensory neuron cilia are elongated in xbx-4 mutants and exhibit stabilized axonemal MTs. XBX-4 promotes DYF-18 CCRK function to regulate localization and function of DYF-5 MAK. We find that Joubert syndrome-associated mutations in the XBX-4 DUF3719 domain also elongate cilia in C. elegans. Our results identify a new metazoan-specific regulator of this highly conserved kinase pathway and suggest that FAM149B1 may similarly act via the CCRK/RCK kinase pathway to regulate ciliary homeostasis in humans. Primary cilia are microtubule (MT)-based organelles that mediate sensory functions in multiple cell types. Disruption of cilia structure or function leads to a diverse collection of diseases termed ciliopathies. 1 Youn Y.H. Han Y.G. Primary cilia in brain development and diseases. Am. J. Pathol. 2018; 188: 11-22 Abstract Full Text Full Text PDF PubMed Scopus (71) Google Scholar , 2 Reiter J.F. Leroux M.R. Genes and molecular pathways underpinning ciliopathies. Nat. Rev. Mol. Cell Biol. 2017; 18: 533-547 Crossref PubMed Scopus (651) Google Scholar , 3 Benmerah A. Durand B. Giles R.H. Harris T. Kohl L. Laclef C. Meilhac S.M. Mitchison H.M. Pedersen L.B. Roepman R. et al. The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies. Cilia. 2015; 4: 5 Crossref PubMed Scopus (6) Google Scholar The highly conserved CCRK and RCK kinases (ICK/MOK/MAK) negatively regulate cilia length and structure in Chlamydomonas, C. elegans, and mammalian cells. 4 Burghoorn J. Dekkers M.P. Rademakers S. de Jong T. Willemsen R. Jansen G. Mutation of the MAP kinase DYF-5 affects docking and undocking of kinesin-2 motors and reduces their speed in the cilia of Caenorhabditis elegans. Proc. Natl. Acad. Sci. USA. 2007; 104: 7157-7162 Crossref PubMed Scopus (87) Google Scholar , 5 Asleson C.M. Lefebvre P.A. Genetic analysis of flagellar length control in Chlamydomonas reinhardtii: a new long-flagella locus and extragenic suppressor mutations. Genetics. 1998; 148: 693-702 Crossref PubMed Google Scholar , 6 Berman S.A. Wilson N.F. Haas N.A. Lefebvre P.A. A novel MAP kinase regulates flagellar length in Chlamydomonas. Curr. Biol. 2003; 13: 1145-1149 Abstract Full Text Full Text PDF PubMed Scopus (149) Google Scholar , 7 Tam L.W. Wilson N.F. Lefebvre P.A. A CDK-related kinase regulates the length and assembly of flagella in Chlamydomonas. J. Cell Biol. 2007; 176: 819-829 Crossref PubMed Scopus (81) Google Scholar , 8 Moon H. Song J. Shin J.O. Lee H. Kim H.K. Eggenschwiller J.T. Bok J. Ko H.W. Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling. Proc. Natl. Acad. Sci. USA. 2014; 111: 8541-8546 Crossref PubMed Scopus (54) Google Scholar , 9 Broekhuis J.R. Verhey K.J. Jansen G. Regulation of cilium length and intraflagellar transport by the RCK-kinases ICK and MOK in renal epithelial cells. PLoS ONE. 2014; 9: e108470 Crossref PubMed Scopus (53) Google Scholar , 10 Maurya A.K. Rogers T. Sengupta P. A CCRK and a MAK kinase modulate cilia branching and length via regulation of axonemal microtubule dynamics in Caenorhabditis elegans. Curr. Biol. 2019; 29: 1286-1300.e4 Abstract Full Text Full Text PDF PubMed Scopus (16) Google Scholar How the activity of this kinase cascade is tuned to precisely regulate cilia architecture is unclear. Mutations in the Domain of Unknown Function 3719 (DUF3719)-containing protein FAM149B1 have recently been shown to elongate cilia via unknown mechanisms and result in the ciliopathy Joubert syndrome. 11 Shaheen R. Jiang N. Alzahrani F. Ewida N. Al-Sheddi T. Alobeid E. Musaev D. Stanley V. Hashem M. Ibrahim N. et al. Bi-allelic mutations in FAM149B1 cause abnormal primary cilium and a range of ciliopathy phenotypes in humans. Am. J. Hum. Genet. 2019; 104: 731-737 Abstract Full Text Full Text PDF PubMed Scopus (15) Google Scholar Here we identify XBX-4, a DUF3719-containing protein related to human FAM149B1, as a regulator of the DYF-18 CCRK and DYF-5 MAK kinase pathway in C. elegans. As in dyf-18 and dyf-5 mutants, 10 Maurya A.K. Rogers T. Sengupta P. A CCRK and a MAK kinase modulate cilia branching and length via regulation of axonemal microtubule dynamics in Caenorhabditis elegans. Curr. Biol. 2019; 29: 1286-1300.e4 Abstract Full Text Full Text PDF PubMed Scopus (16) Google Scholar sensory neuron cilia are elongated in xbx-4 mutants and exhibit stabilized axonemal MTs. XBX-4 promotes DYF-18 CCRK function to regulate localization and function of DYF-5 MAK. We find that Joubert syndrome-associated mutations in the XBX-4 DUF3719 domain also elongate cilia in C. elegans. Our results identify a new metazoan-specific regulator of this highly conserved kinase pathway and suggest that FAM149B1 may similarly act via the CCRK/RCK kinase pathway to regulate ciliary homeostasis in humans." @default.
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• W3208796272 date "2021-12-01" @default.
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• W3208796272 title "xbx-4, a homolog of the Joubert syndrome gene FAM149B1, acts via the CCRK and RCK kinase cascade to regulate cilia morphology" @default.
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