Cheol-Hee Kim
  • Ph. D.
  • Cheol-Hee Kim
  • Molecular Genetics
  • N11-514
  • Laboratory of Developmental Genetics (N11-514)
  • +82-42-821-5494, 7535

Academic Career

  • Ph. D., 1997, Department of Pharmacology, Osaka University Medical School, Japan


  • Postdoc., 1998-2001, Laboratory of Molecular Genetics, National Institute of Child Health and Human Development, National Institutes of Health, USA

Research Interests

  • Functional study of mental disorder genes

    We are conducting a systematic zebrafish knockout project to validate candidate genes for mental disorders, including autism. Knockout (KO) zebrafish for the Miles-Carpenter syndrome gene (ZC4H2) were created and KO animal exhibited abnormal swimming, defective eye movement and pectoral fin contractures. We observed a striking reduction in GABAergic interneurons. Analysis of cell-type-specific markers showed a specific loss of V2 interneurons in the brain and spinal cord. Loss of function of ZC4H2 thus likely results in altered connectivity of neuronal circuits, infantile spasm and intellectual disability. The second case is related to autism spectrum disorders (ASDs). ASDs comprise a wide range of neurodevelopmental disorders, characterized by deficits in social behavior, along with repetitive behaviors and impaired communication. Though the exact causes for ASD remain poorly understood, genetic mutations resulting in altered gene function have been implicated causally in ASD. Intragenic mutations in DYRK1A, which have been shown previously to be associated with clinical aspects of Down syndrome, have been associated recently with microcephaly and ASD-like symptoms. We provide a case study of an individual with a 21kb microdeletion within the DYRK1A locus, who has both microcephaly and ASD. We show that dyrk1aa KO fish have microcephaly and impaired social interactions through two newly developed behavioral tests: social interaction and shoaling assays. Also, we confirmed that behavior analysis for ASD through our dyrk1aa KO zebrafish is experimentally tractable, and propose these social behavioral assay methods in zebrafish as a tool for the widespread study of ASD candidate genes.

Selected Publication

  • Choi JH et al., Targeted knockout of a chemokine-like gene increases anxiety and fear responses. Proc Natl Acad Sci USA. 2018.
  • Liu ZZ et al., Chd7 is critical for early T-cell development and thymus organogenesis. Am J Pathol.. 2018.
  • Kim SI et al., Deficiency of a brain-specific chemokine-like molecule, SAM3, induces cardinal phenotypes of autism spectrum disorders in mice. Sci Rep.. 2017.
  • Kim HT et al., Ottogi Inhibits Wnt/β-catenin Signaling by Regulating Cell Membrane Trafficking of Frizzled8. Sci Rep.. 2017.
  • Kim OH et al., Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism. Mol Autism. 2017.
  • Shim J et al., Development of zebrafish medulloblastoma-like PNET model by TALEN-mediated somatic gene inactivation. Oncotarget. 2017
  • Lee SH et al., MCRS1 associates with cytoplasmic dynein and mediates pericentrosomal material recruitment. Sci Rep. 2016
  • Labonne JD et al., An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability. Hum Genet. 2016
  • Kyung T et al., Optogenetic control of endogenous Ca(2+) channels in vivo. Nat Biotechnol. 2015
  • May M et al., ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. Hum Mol Genet. 2015
  • Lee MS et al., IFT46 plays an essential role in cilia development. Dev Biol. 2015
  • Kim CH et al., Mind Bomb Is a Ubiquitin Ligase that Is Essential for Activation of Notch Signaling. Developmental Cell. 2003
  • Kim CH et al., Repressor activity of Headless/Tcf3 is essential for vertebrate head formation. Nature. 2000