FMR1

fragile X messenger ribonucleoprotein 1

Ensembl:
ENSG00000102081
UniProt:
Q06787
OMIM:
309550
Synonyms:
FMRP, FRAXA, MGC87458, POF, POF1

Cilia effects upon perturbation of FMR1

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]: No effect 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=-2.45, ciliated=18.8%) PMID:26595381

Phenotypes

Human ciliopathy phenotype:
fragile X-associated tremor/ataxia syndrome; Intellectual disability

Subcellular localization

cilia, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Neurogenesis & migration
  • Viral interactions
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

FMRP regulates transport efficacy, by regulating the association between mR cargo and and suggest a new mechanism for the Fragile X syndrome(18655836). Ciliary mRNP granules contained Fmrp, an R -binding protein (RBP) critical for neuro l plasticity by regulating local translation in neurites(25549890). Depriving the ciliary pool of Fmrp resulted in degeneration of ependymal multicilia(34848703). The number of primary cilia in Fmr1 KO mice is reduced, specifically in the DG of the hippocampus (32735823) FMRP loss leads to primary ciliary deficits in cerebellar Bergmann glia which may contribute to cerebellar deficits in FXS. (35438410)

Model organism evidence

Mus musculus (2 references)

Here, we discovered a reduction in the number of primary cilia and the Sonic hedgehog (Shh) signaling in cerebellar Bergmann glia of Fmr1 KO mice.

Here, we found that the number of primary cilia in Fmr1 KO mice is reduced, specifically in the DG of the hippocampus.

PMIDs: 35438410, 32735823