PRPF8

Cilia effects upon perturbation of PRPF8

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (5 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-18.49) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-3.04, ciliated=14.4%) PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=127, lfc=0.62) PMID:30270045

Phenotypes

Mouse phenotype:

abnormal embryo size, embryonic growth retardation, preweaning lethality, complete penetrance

Human ciliopathy phenotype:

Autosomal dominant retinitis pigmentosa type 13 (RP13) — progressive retinal degeneration.

Ciliopathy associations

• Retinal Dystrophy/Degeneration
• Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)

References: PMID:40777246

Subcellular localization

basal body, cilia, nucleus

References: PMID:40777246, PMID:26167768, PMID:36180752

Functional category

• Ciliary assembly/disassembly

Function

Mutated in autosomal dominant RP type 13. Splicing factor implicated in the correct splicing of transcripts encoding proteins important for ciliogenesis. It has been implicated in the process of centriolar under-duplication (26167768). In mouse and zebrafish, Prpf8 mutants show laterality defects and altered ARL13B splicing (exon 9 skipping) in left-right organizer cilia (PMID 40501629, bioRxiv).