BBSome

The BBSome is an octameric protein complex. It is a component of the basal body and is involved in trafficking cargos to the primary cilium.[1][2] The BBSome is a complex of seven Bardet–Biedl syndrome (BBS) proteins: BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. In addition the BBSome contains the BBIP10 protein.[3] Mutation in each of this eight BBSome genes (as well as other 14 BBS genes identified to date [4]) causes a severe multiorganic syndrome (BBS) presenting in most cases by retinal dystrophy, obesity, renal anomalies, post-axial polydactyly, and developmental delay.[5]

History

The BBSome was first identified in 2007 by Peter K. Jackson and colleagues.[6]

Assembly

BBSome assembly has been shown to be mediated by a complex containing a further three BBS proteins: BBS6, BBS10 and BBS12. In addition chaperonins of the CCT/TRiC family are involved.[7]

References
  1. Sheffield VC (2010). "The blind leading the obese: the molecular pathophysiology of a human obesity syndrome". Trans. Am. Clin. Climatol. Assoc. 121: 172–81, discussion 181–2. PMC 2917141. PMID 20697559.
  2. Jin H, White SR, Shida T, et al. (June 2010). "The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia". Cell. 141 (7): 1208–19. doi:10.1016/j.cell.2010.05.015. PMC 2898735. PMID 20603001.
  3. Jin H, Nachury MV (June 2009). "The BBSome". Curr. Biol. 19 (12): R472–3. doi:10.1016/j.cub.2009.04.015. PMID 19549489.
  4. Heon, Elise; Kim, Gunhee; Qin, Sophie; Garrison, Janelle E.; Tavares, Erika; Vincent, Ajoy; Nuangchamnong, Nina; Scott, C. Anthony; Slusarski, Diane C. (2016-06-01). "Mutations inC8ORF37cause Bardet Biedl syndrome (BBS21)". Human Molecular Genetics. 25 (11): 2283–2294. doi:10.1093/hmg/ddw096. ISSN 0964-6906. PMC 5081059. PMID 27008867.
  5. Forsythe, Elizabeth; Beales, Philip L. (January 2013). "Bardet-Biedl syndrome". European Journal of Human Genetics. 21 (1): 8–13. doi:10.1038/ejhg.2012.115. ISSN 1476-5438. PMC 3522196. PMID 22713813.
  6. Nachury MV, Loktev AV, Zhang Q, et al. (June 2007). "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis". Cell. 129 (6): 1201–13. doi:10.1016/j.cell.2007.03.053. PMID 17574030.
  7. Seo S, Baye LM, Schulz NP, et al. (January 2010). "BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly". Proc. Natl. Acad. Sci. U.S.A. 107 (4): 1488–93. doi:10.1073/pnas.0910268107. PMC 2824390. PMID 20080638.
  • Loktev, A.V., Q. Zhang, J. S. Beck, C. C. Searby, T. E. Scheetz, J. F. Bazan, D. C. Slusarski, V. C. Sheffield, P. K. Jackson, M. V. Nachury (2008). A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Developmental Cell 2008 15:854-65.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.