Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis

Shobi Veleri, Souparnika H. Manjunath, Robert N. Fariss, Helen May-Simera, Matthew Brooks, Trevor A. Foskett, Chun Gao, Teresa A. Longo, Pinghu Liu, Kunio Nagashima, Rivka A. Rachel, Tiansen Li, Lijin Dong and Anand Swaroop ()
Additional contact information
Shobi Veleri: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, NIH
Souparnika H. Manjunath: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, NIH
Robert N. Fariss: Biological Imaging Core, National Eye Institute, NIH
Helen May-Simera: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, NIH
Matthew Brooks: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, NIH
Trevor A. Foskett: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, NIH
Chun Gao: Biological Imaging Core, National Eye Institute, NIH
Teresa A. Longo: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, NIH
Pinghu Liu: Genetic Engineering Core, National Eye Institute, NIH
Kunio Nagashima: Electron Microscope Laboratory, Advanced Technology Program, Frederick National Laboratory for Cancer Research
Rivka A. Rachel: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, NIH
Tiansen Li: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, NIH
Lijin Dong: Genetic Engineering Core, National Eye Institute, NIH
Anand Swaroop: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, NIH

Nature Communications, 2014, vol. 5, issue 1, 1-12

Abstract: Abstract The primary cilium originates from the mother centriole and participates in critical functions during organogenesis. Defects in cilia biogenesis or function lead to pleiotropic phenotypes. Mutations in centrosome-cilia gene CC2D2A result in Meckel and Joubert syndromes. Here we generate a Cc2d2a−/− mouse that recapitulates features of Meckel syndrome including embryonic lethality and multiorgan defects. Cilia are absent in Cc2d2a−/− embryonic node and other somatic tissues; disruption of cilia-dependent Shh signalling appears to underlie exencephaly in mutant embryos. The Cc2d2a−/− mouse embryonic fibroblasts (MEFs) lack cilia, although mother centrioles and pericentriolar proteins are detected. Odf2, associated with subdistal appendages, is absent and ninein is reduced in mutant MEFs. In Cc2d2a−/− MEFs, subdistal appendages are lacking or abnormal by transmission electron microscopy. Consistent with this, CC2D2A localizes to subdistal appendages by immuno-EM in wild-type cells. We conclude that CC2D2A is essential for the assembly of subdistal appendages, which anchor cytoplasmic microtubules and prime the mother centriole for axoneme biogenesis.

Date: 2014
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/ncomms5207 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:5:y:2014:i:1:d:10.1038_ncomms5207

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/ncomms5207

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().