BBS10

Cilia effects upon perturbation of BBS10

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Longer Cilia/Shorter Cilia

Ciliogenesis screen results (2 screens)

• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.6) PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=6, lfc=-4.52) PMID:30270045

Phenotypes

Mouse phenotype:

preweaning lethality, complete penetrance, increased circulating sodium level

Human ciliopathy phenotype:

Bardet-Biedl syndrome 10; Bardet-Biedl syndrome; Bardet-Biedl syndrome 1

Ciliopathy associations

• Bardet-Biedl Syndrome

Subcellular localization

basal body

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• Transcription regulation
• Cilia length regulation

Function

Mutated in Bardet-Biedl syndrome (type 10) (OMIM :610148 ,PMID:16582908). Chaperonin-like protein. Forms complex with other chaperonin-like BBS proteins to facilitate BBSome assembly (PMID:20080638). At basal body of differentiating preadipocytes. Role in targeting of Wnt and Hh receptors to this cilium (PMID:19190184). Investigation of the cilia length in patient fibroblasts revealed that the mean ciliary length was significantly shorter in BBS1−/− cells (3.11 µm), whereas BBS5−/− (4.31–4.14 µm) and BBS10−/− (3.8–4.4 µm) all had significantly longer cilia compared to the pool of control cells (3.61 µm). The frequency of ciliated cells was significantly lower in BBS10−/−(A) (89.16%) and BBS10−/−(B) (85.78%) cells compared to the pool of the control cells (92.60%). (https://doi.org/10.3390/ijms22031345). Consistently, we observed significantly shorter cilia in cells expressing BBS10 and BBS12 mutants (PMID: 40914337).