Article
Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis.
Nature communications - 20 Jun 2014
Veleri Shobi, Manjunath Souparnika H, Fariss Robert N, May-Simera Helen, Brooks Matthew, Foskett Trevor A, Gao Chun, Longo Teresa A, Liu Pinghu, Nagashima Kunio, Rachel Rivka A, Li Tiansen, Dong Lijin, Swaroop Anand
Abstract excerpt
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...
Topics
- Alleles
- Animals
- Biological Transport
- Centrioles
- Centrosome
- Cilia
- Cytoplasm
- Cytoskeletal Proteins
- Fibroblasts
- Flow Cytometry