SON

Cilia effects upon perturbation of SON

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (4 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-15.82) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-3.03, ciliated=14.5%) PMID:26595381

Phenotypes

Mouse phenotype:

increased mean corpuscular hemoglobin

Mouse ciliopathy phenotype:

Son+/- mice recapitulate ZTTK phenotype: growth retardation, cognitive impairment, skeletal abnormalities, kidney agenesis (PMID 38516884)

Human ciliopathy phenotype:

multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Ciliopathy associations

• ZTTK Syndrome

Subcellular localization

cilia associated gene

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

The impact of mRNA splicing on cilia assembly after mitosis of the cell cycle. Splicing regulators SON and XAB2 play an important role in mitosis exit, and thus affect ciliogenesis in G1/G0 phases. The pivotal role of mRNA splicing regulators in cilia assembly and underscores the importance of mitotic regulation in ciliogenesis(PMID: 30460047).