WDR11

Cilia effects upon perturbation of WDR11

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (4 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.35) 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=-2.10, ciliated=21.5%) PMID:26595381

Phenotypes

Mouse phenotype:

abnormal spil cord morphology, abnormal skin morphology, no spontaneous movement, abnormal tail length, decreased exploration in new environment, small heart, increased red blood cell distribution width, developmental dysplasia, improved glucose tolerance, anophthalmia, abnormal eye morphology

Mouse ciliopathy phenotype:

enlarged kidney, abnormal heart morphology, abnormal liver morphology, abnormal kidney morphology, enlarged heart, absent adrel gland, male infertility

Human ciliopathy phenotype:

isolated congenital hypogonadotropic hypogonadism; hypogonadotropic hypogonadism 14 with or without anosmia

Ciliopathy associations

• Kallmann Syndrome

Subcellular localization

basal body, cilia, flagella, nucleus

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Reproduction & sperm
• Signaling (Hedgehog, GPCRs, ion channels)

Function

Modulates the Hedgehog (Hh) sig lling pathway and is essential for ciliogenesis. It may be required for cilia extension and growth. Interacts with ciliary components involved in human ciliopathies such as BBSomes and IFT proteins. Shuttles between cilium and nucleus in response to Shh sig lling. Implicated in congenital hypogo dotropic hypogo dism (CHH) and Kallmann syndrome (KS), characterised by delayed puberty and infertility (29263200).

Model organism evidence