TWIST1

Cilia effects upon perturbation of TWIST1

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (4 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Failler/Valderrama et al. 2021 (siRNA) [siRNA]: Negative Regulator (Ciliogenesis Candidate) PMID:33206585

Phenotypes

Mouse phenotype:

decreased circulating triglyceride level, abnormal autopod morphology, abnormal vertebral arch morphology, decreased prepulse inhibition, abnormal digit morphology, abnormal pelvic girdle bone morphology, abnormal skin morphology, decreased circulating amylase level, abnormal il morphology, abnormal zygomatic bone morphology, decreased circulating hdl cholesterol level, decreased circulating cholesterol level, increased lean body mass, abnormal vertebrae morphology, decreased startle reflex

Mouse ciliopathy phenotype:

abnormal brain morphology, abnormal cranium morphology

Subcellular localization

cilia associated gene, nucleus

Functional category

• Ciliary assembly/disassembly

Function

Twist1 knockout resulted in reduced ciliary length and number.

Model organism evidence