PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia

Tanner O. Monroe, Melanie E. Garrett, Maria Kousi, Ramona M. Rodriguiz, Sungjin Moon, Yushi Bai, Steven C. Brodar, Karen L. Soldano, Jeremiah Savage, Thomas F. Hansen, Donna M. Muzny, Richard A. Gibbs, Lawrence Barak, Patrick F. Sullivan, Allison E. Ashley-Koch, Akira Sawa, William C. Wetsel, Thomas Werge, Nicholas Katsanis*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


The neuronal primary cilium and centriolar satellites have functions in neurogenesis, but little is known about their roles in the postnatal brain. We show that ablation of pericentriolar material 1 in the mouse leads to progressive ciliary, anatomical, psychomotor, and cognitive abnormalities. RNAseq reveals changes in amine- and G-protein coupled receptor pathways. The physiological relevance of this phenotype is supported by decreased available dopamine D2 receptor (D2R) levels and the failure of antipsychotic drugs to rescue adult behavioral defects. Immunoprecipitations show an association with Pcm1 and D2Rs. Finally, we sequence PCM1 in two human cohorts with severe schizophrenia. Systematic modeling of all discovered rare alleles by zebrafish in vivo complementation reveals an enrichment for pathogenic alleles. Our data emphasize a role for the pericentriolar material in the postnatal brain, with progressive degenerative ciliary and behavioral phenotypes; and they support a contributory role for PCM1 in some individuals diagnosed with schizophrenia.

Original languageEnglish (US)
Article number5903
JournalNature communications
Issue number1
StatePublished - Dec 2020

ASJC Scopus subject areas

  • General Chemistry
  • General Biochemistry, Genetics and Molecular Biology
  • General Physics and Astronomy


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