The BBSome is an octameric protein complex. It is a component of the
basal body
A basal body (synonymous with basal granule, kinetosome, and in older cytological literature with blepharoplast) is a protein structure found at the base of a eukaryotic undulipodium (cilium or flagellum). The basal body was named by Theodor Wi ...
and is involved in trafficking cargos to the
primary cilium.
The BBSome is a complex of seven
Bardet–Biedl syndrome
Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction i ...
(BBS) proteins:
BBS1,
BBS2
Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the ''BBS2'' gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generat ...
,
BBS4,
BBS5,
BBS7,
BBS8
Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the ''TTC8'' gene.
Function
TTC8 is associated with gamma-tubulin, BBS4, and PCM1 in the centrosome. PCM1 in turn is i ...
and
BBS9. In addition the BBSome contains the
BBIP10 protein.
Mutation in each of this eight BBSome genes (as well as other 14 BBS genes identified to date ) causes a severe multiorganic syndrome (BBS) presenting in most cases by retinal dystrophy, obesity, renal anomalies, post-axial polydactyly, and developmental delay.
History
The BBSome was first identified in 2007 by Peter K. Jackson and colleagues.
Assembly
BBSome assembly has been shown to be mediated by a complex containing a further three BBS proteins:
BBS6,
BBS10
Bardet–Biedl syndrome 10, also known as BBS10 is a human gene.
Function
The Bardet-Biedl syndrome 10 protein has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of ...
and
BBS12. In addition chaperonins of the CCT/TRiC family are involved.
References
* 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.
Organelles
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