ATR

Cilia effects upon perturbation of ATR

Cilia number / % ciliated:

No Effect

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (5 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.24) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=841, lfc=-1.99) PMID:30270045

Phenotypes

Mouse phenotype:

increased startle reflex, decreased circulating glucose level, embryonic lethality prior to organogenesis, abnormal spil cord morphology, preweaning lethality, complete penetrance, embryonic lethality prior to tooth bud stage, increased fasting circulating glucose level

Subcellular localization

cilia, nucleus

References: PMID:23297361, PMID:26908596

Functional category

• Ciliary assembly/disassembly
• Cilia length regulation

Function

Localization of ATR in the cilia of PRs and the fact that mutant mice have shorter cilia suggests that the PR degeneration here described results from a ciliary defect (23297361). ATR-depleted human fibroblasts and ATR-Seckel syndrome (ATR-SS) patient cells show slightly reduced cilia length compared to controls.Zebrafish embryos depleted of Atr also had shorter cilia in the Kupffer’s vesicle (P < 0.0001), confirming a conserved phenotype across species (PMID: 26908596)