BBS12

Cilia effects upon perturbation of BBS12

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.51) PMID:29459680

Phenotypes

Mouse phenotype:

preweaning lethality, incomplete penetrance, no spontaneous movement, enlarged spleen, abnormal spleen morphology, enlarged thymus, abnormal thymus morphology

Mouse ciliopathy phenotype:

enlarged heart, abnormal heart morphology

Human ciliopathy phenotype:

Bardet-Biedl syndrome 12; 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)
• Actin & cytoskeleton regulation
• T cell biology
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane

Function

Mutated in Bardet-Biedl syndrome (type 12) (OMIM :610683 ,PMID:17160889). 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). Inhibition of BBS10 and BBS12 expression resulted in a significant reduction in the number of ciliated cells compared to control RNAi treated cells (PMID: 19190184). Consistently, we observed significantly shorter cilia in cells expressing BBS10 and BBS12 mutants. (PMID: 40914337)