Genomes and Genes
Gene Symbol: Ttc8
Description: tetratricopeptide repeat domain 8
Alias: 0610012F22Rik, AV001447, BBS8, tetratricopeptide repeat protein 8, TPR repeat protein 8, bardet-Biedl syndrome 8 protein homolog
- Veleri S, Bishop K, Dalle Nogare D, English M, Foskett T, Chitnis A, et al. Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects. PLoS ONE. 2012;7:e34389 pubmed publisher..Consistent with these findings, knockdown of Bbs9 in mouse IMCD3 cells results in the absence of cilia. Our studies suggest a key conserved role of BBS9 in biogenesis and/or function of cilia in zebrafish and mammals. ..
- Hernandez Hernandez V, Pravincumar P, Diaz Font A, May Simera H, Jenkins D, Knight M, et al. Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization. Hum Mol Genet. 2013;22:3858-68 pubmed publisher..Furthermore, we observed over-abundant focal adhesions (FAs) in Bbs4-, Bbs6- and Bbs8-deficient cells...
- Chamling X, Seo S, Searby C, Kim G, Slusarski D, Sheffield V. The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. PLoS Genet. 2014;10:e1004083 pubmed publisher..These findings associate AZI1 with the BBS pathway. Our findings provide further insight into the regulation of BBSome ciliary trafficking and identify AZI1 as a novel BBS candidate gene. ..
- Broekhuis J, Verhey K, 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 pubmed publisher..of kinesin-II, the main anterograde IFT motor, complex A protein IFT43, complex B protein IFT20, BBSome protein BBS8 and homodimeric kinesin KIF17, whose function in mammalian cilia is unclear...
- May Simera H, Petralia R, Montcouquiol M, Wang Y, Szarama K, Liu Y, et al. Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea. Development. 2015;142:555-66 pubmed publisher..Results indicated notable PCP defects, including mis-oriented hair cell stereociliary bundles, in Bbs8 and Ift20 single mutants that are more severe than in other cilia gene knockouts...
- Zhang B, Wang G, Xu X, Yang S, Zhuang T, Wang G, et al. DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle. J Biol Chem. 2017;292:1351-1360 pubmed publisher..Collectively, our findings reveal the cell cycle-dependent regulation of BBSome transport to the CS and highlight a potential mechanism that the BBSome-mediated signaling pathways are accordingly regulated during the cell cycle. ..
- Dilan T, Singh R, Saravanan T, Moye A, Goldberg A, Stoilov P, et al. Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. Hum Mol Genet. 2018;27:283-294 pubmed publisher..The products of eight of these BBS genes form a stable octameric complex termed the BBSome. Mutations in BBS8, a component of the BBSome, cause early vision loss, but the role of BBS8 in supporting vision is not known...
- Tadenev A, Kulaga H, May Simera H, Kelley M, Katsanis N, Reed R. Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting. Proc Natl Acad Sci U S A. 2011;108:10320-5 pubmed publisher..To explore the nature of olfactory defects in BBS, a genetic ablation of the mouse Bbs8 gene that incorporates a fluorescent reporter protein was created...
- Stoetzel C, Laurier V, Faivre L, Megarbane A, Perrin Schmitt F, Verloes A, et al. BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. J Hum Genet. 2006;51:81-4 pubmedb>BBS8 is one of the eight genes identified to date for Bardet-Biedl syndrome (BBS)-an autosomal recessive condition associated with retinitis pigmentosa, obesity, polydactyly, cognitive impairment and kidney failure...
- Beales P. Lifting the lid on Pandora's box: the Bardet-Biedl syndrome. Curr Opin Genet Dev. 2005;15:315-23 pubmed..In the next few years, these pathways will be revealed, and their impact on the development of systems as diverse as the cardiovascular, neurological, endocrinological and skeletal will be realized. ..
- Hsu Y, Garrison J, Kim G, Schmitz A, Searby C, Zhang Q, et al. BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment. PLoS Genet. 2017;13:e1007057 pubmed publisher..To gain insight into the mechanisms of retinal degeneration in BBS, we developed a congenital knockout mouse of Bbs8, as well as conditional mouse models in which function of the BBSome (a protein complex that mediates ciliary ..