SASS6

Cilia effects upon perturbation of SASS6

Cilia number / % ciliated:

Incrased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

Increased

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.91) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.49) PMID:29459680

Phenotypes

Mouse phenotype:

pale yolk sac, abnormal neural tube morphology, abnormal pericardium morphology, abnormal pharyngeal arch morphology, preweaning lethality, complete penetrance, abnormal forebrain development, abnormal tail bud morphology, abnormal hindbrain development, abnormal heart looping, edema, embryonic growth retardation, abnormal vitelline vasculature morphology, abnormal embryo size, abnormal optic vesicle formation, embryonic lethality prior to tooth bud stage, abnormal somite shape

Mouse ciliopathy phenotype:

abnormal neural tube closure, abnormal embryo turning, abnormal heart morphology, abnormal midbrain development

Subcellular localization

basal body, centrosome, cilia, flagella, microtubules

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

Required for daughter centriole formation and primary cilia assembly in mammalian cells. Recruited to centrioles by STIL (22349705). Interacts with SAS-5 and both are mutually dependent for their centriolar distribution (15665853). Cooperates with PLK4 and STIL to initiate centriole duplication (27911707). Depletion has been shown to reduce the microtubule numbers in Chlamydomo s and Drosophila centrioles, suggesting that SASS6 has a direct role in the regulation of centriolar microtubule formation (26422590).

Model organism evidence