Erratum: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

Toriyama, Minoru; Lee, Chanjae; Taylor, S. Paige; Durán, Iván; Cohn, Daniel H.; Bruel, Ange‐Line; Tabler, Jacqueline M.; Drew, Kevin; Kelly, Marcus R.; Kim, Sukyoung; Park, Tae Joo; Braun, Daniela A.; Pierquin, Ghislaine; Biver, Armand; Wagner, Kerstin; Malfroot, Anne; Panigrahi, Inusha; Bazzoli, Franco; Al-Lami, Hadeel Adel; Yeung, Yvonne; Choi, Yeon Ja; Duffourd, Yannis; Faivre, Laurence; Rivière, Jean‐Baptiste; Jiang, Chen; Liu, Karen; Marcotte, Edward M.; Hildebrandt, Friedhelm; Thauvin‐Robinet, Christel; Krakow, Deborah; Jackson, Peter K.; Wallingford, John B.

doi:10.1038/ng0816-970b

Cited by 56 publications

(3 citation statements)

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“…IFT20 has been implicated in trafficking to docked centrioles at the immune synapse (Vivar et al, 2016) so it is possible expression is retained in GC neurons because the protein is similarly needed, even in the absence of the cilium. We also found additional genes related to IFT recruitment with elevated expression in differentiating and mature GC neurons (included in the expression pattern clusters 2 and 5): Cpane1 / Jbts17 and Cplane2/Rsg1 code for proteins that are important for basal body recruitment of IFT-A complexes (Toriyama et al, 2016) and Cep19 and Rabl2 encode proteins that facilitate IFT-B injection (Kanie et al, 2017). While it is possible IFT20 and these other proteins may have non-IFT functions, we anticipate that they function at docked centrioles in adult GCs.…”

Section: Resultsmentioning

confidence: 93%

Programmed withdrawal of cilia maintenance followed by centriole capping leads to permanent cilia loss during cerebellar granule cell neurogenesis

Constable,

Ott,

Lemire

et al. 2023

Preprint

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Primary cilia in brain neurons provide a privileged compartment for binding and responding to extracellular ligands such as sonic hedgehog. Paradoxically, cilia in differentiating cerebellar granule cells are deconstructed during neurogenesis. To identify mechanisms underlying this newly defined cilia deconstruction pathway, we used single cell transcriptomic and immunocytological analyses to compare the transcript and protein signatures of differentiating and progenitor granule cells. We found that differentiating granule cells lacked transcripts for key regulators of pre-mitotic cilia resorption, suggesting cilia disassembly in differentiating cells was distinct from pre-mitotic cilia resorption. Further analysis revealed that during differentiation, transcription of genes required for cilia maintenance decreased. Specifically, protein components of intraflagellar transport complexes, pericentrosomal material and centriolar satellites all decreased as granule cells matured. The changes in transcription and translation correlated with the downregulation of sonic hedgehog signaling at the onset of differentiation. We also found binding of centriolar cap proteins to the mother centrioles as granule cell neurons matured. These data indicate that global, developmentally programmed, diminution of cilium maintenance caused cilia deconstruction in differentiating granule cells. Furthermore, the capping of docked mother centrioles prevents cilia regrowth likely blocking dysregulated sonic hedgehog signaling and tumorigenesis.

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Section: Resultsmentioning

confidence: 93%

Programmed withdrawal of cilia maintenance followed by centriole capping leads to permanent cilia loss during cerebellar granule cell neurogenesis

Constable,

Ott,

Lemire

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

“…Variant pathogenicity was predicted using sorting intolerant from tolerant (SIFT), Polyphen-2, and Combined Annotation-Dependent Depletion (CADD v1.6). 4-6…”

Section: Methodsmentioning

confidence: 99%

“…Variant pathogenicity was predicted using sorting intolerant from tolerant (SIFT), Polyphen-2, and Combined Annotation-Dependent Depletion (CADD v1.6). [4][5][6] Ethical Approval This study was approved by the ethics committee of the National Institute of Neuroscience, National Center of Neurology and Psychiatry (Approval No. A2014-036), and written consent was obtained from all patients.…”

Section: Genome Analysismentioning

confidence: 99%

Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant

et al. 2022

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Background and ObjectivesWe describe 2 long-surviving siblings with a mild phenotype of Joubert syndrome (JBTS) harboring a novel compound heterozygous missense variant in the CPLANE1 gene.MethodsTargeted sequencing data of 2 middle-aged siblings (sister and brother) with JBTS were analyzed.ResultsThe patients were older than 60 years and presented with an inborn facial anomaly and ataxia, accompanied by a molar tooth sign on brain MRI. The male patient showed mild intellectual disability, abnormal eye movements, and progressive gait disturbance. Targeted sequencing revealed a compound heterozygous missense variant of CPLANE1 p.Arg1193Cys_Gln1223Pro; c.3577C>T_3668A>C. Multiple in silico assays predicted that the missense sites were pathogenic.DiscussionThe phenotype-genotype correlation of CPLANE1 remains controversial, although many cases have been previously reported in children and young adults. Our study revealed a novel pathogenic variant of CPLANE1 in patients, confirming the role of this gene in JBTS, thus providing an opportunity for neurologists to recognize JBTS as a differential diagnosis for chronic progressive ataxia in an aging society.

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Molecular Genetics of Oral‐Facial‐Digital Syndromes

Bazzoli¹

2019

Encyclopedia of Life Sciences

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Oral‐facial‐digital syndromes (OFDS) identify a group of rare and genetically heterogeneous disorders. Typical features include abnormalities of the face, oral cavity and digits with frequent involvement of the central nervous system and of visceral organs. OFD type I was first described in 1941 and to date, several different forms have been reported. It is still unclear whether all the described subtypes do exist, and only next‐generation sequencing approaches will clarify the number of different OFDS. Sixteen genes have been found mutated to date and all of them localise to the primary cilium, a microtubule‐based organelle conserved across species protruding from the cell surface of vertebrate cells. These transcripts contribute to primary cilia structure/formation/maintenance and/or function thus ascribing this condition to the number of disorders due to cilia dysfunction called ‘ciliopathies.’ Key Concepts OFDS are rare and highly heterogeneous from a genetic point of view. NGS approaches will eventually define the exact number of different OFDS. A multiallelic mode of inheritance may modify the phenotype in OFDS patients. Most of the OFDS are due to dysfunction of primary cilia. The majority of genes responsible for OFDs are localized to primary cilia.

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Erratum: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

Abstract: In the version of this article initially published, the name of author Daniela A. Braun was misspelled. The error has been corrected in the HTML and PDF versions of the article.

Cited by 56 publications

References 1 publication

Programmed withdrawal of cilia maintenance followed by centriole capping leads to permanent cilia loss during cerebellar granule cell neurogenesis

Programmed withdrawal of cilia maintenance followed by centriole capping leads to permanent cilia loss during cerebellar granule cell neurogenesis

Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant

Molecular Genetics of Oral‐Facial‐Digital Syndromes

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