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 Freely accessible. 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. PMC 2898735 Freely accessible. PMID 20603001. doi:10.1016/j.cell.2010.05.015.
  3. ↑ Jin H, Nachury MV (June 2009). "The BBSome". Curr. Biol. 19 (12): R472–3. PMID 19549489. doi:10.1016/j.cub.2009.04.015.
  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. ISSN 0964-6906. doi:10.1093/hmg/ddw096.
  5. ↑ Forsythe, Elizabeth; Beales, Philip L. (January 2013). "Bardet-Biedl syndrome". European journal of human genetics: EJHG. 21 (1): 8–13. ISSN 1476-5438. PMC 3522196 Freely accessible. PMID 22713813. doi:10.1038/ejhg.2012.115.
  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. PMID 17574030. doi:10.1016/j.cell.2007.03.053.
  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. PMC 2824390 Freely accessible. PMID 20080638. doi:10.1073/pnas.0910268107.


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