Disease Genes in Xenopus Development

Many genes associated with human disease act first during embryonic development. The African clawed frogs Xenopus laevis and X. tropicalis let us manipulate these genes quickly in large numbers of externally developing embryos, and follow the consequences in cells, tissues, and organs as they form.

Genomic resources

We have contributed to the Xenopus genome assemblies and comparative frog genomics, and to community resources such as Xenbase and the Alliance of Genome Resources, so that disease genes can be studied in the context of the frog genome.

What we study

  • Cilia and ciliopathy genes. Multiciliated cells of the Xenopus epidermis are a powerful system for genes required for cilia formation and beating, whose defects cause ciliopathies.
  • Neural, craniofacial, and kidney development. We have characterized genes linked to neurodevelopmental and congenital disorders, including chromatin regulators (KDM5C, KDM3A), cytoskeletal regulators, and redox enzymes that control neural crest migration, eye and craniofacial formation, and pronephros (embryonic kidney) development.
  • Genetic disorder modeling. We are building Xenopus models of genetic disorders such as RASopathies, combined with phenotype screening (see Imaging-Based Phenomics).
  • Developmental toxicity. The same embryos reveal how environmental chemicals and nanoparticles disturb development.

Selected publications

Leading studies

  • Kwon KY#, Jeong H#, Jang DG, Kwon T*, Park TJ*. (2023) Ckb and Ybx2 interact with Ribc2 and are necessary for the ciliary beating of multi-cilia. , Genes Genomics., 45(2):157-167. PMID:36508087 doi:10.1007/s13258-022-01350-w.
  • Kim Y, Jeong Y, Kwon K, Ismail T, Lee HK, Kim C, Park JW, Kwon OS, Kang BS, Lee DS, Park TJ, Kwon T*, Lee HS* (2018) Physiological effects of KDM5C on neural crest migration and eye formation during vertebrate development , Epigenetics Chromatin, PMID:30522514 doi:10.1186/s13072-018-0241-x
  • Session AM#, Uno Y#, Kwon T#, Chapman JA, Toyoda A, Takahashi S, Fukui A, Hikosaka A, Suzuki A, Kondo M, van Heeringen S, Quigley IK, Heinz S, Ogino H, Ochi H, Hellsten U, Lyons JB, Simakov O, Putnam N, Stites J, Kuroki Y, Tanaka T, Michiue T, Watanabe M, Bogdanovic O, Lister R, Georgiou G, Paranjpe SS, van Kruijsbergen I, Shu S, Carlson J, Kinoshita T, Ohta Y, Mawaribuchi S, Jenkins J, Grimwood J, Schmutz J, Mitros T, Mozaffari SV, Suzuki Y, Haramoto Y, Yamamoto TS, Takagi C, Heald R, Miller K, Haudenschild C, Kitzman J, Nakayama T, Izutsu Y, Robert J, Fortiede J, Burns K, Lotay V, Karimi K, Yasuoka Y, Dichmann DS, Flajnik MF, Houston DW, Shendure J, DuPasquier L, Vize PD, Zorn AM, Ito M, Marcotte EM, Wallingford JB, Ito Y, Asashima M, Ueno N, Matsuda Y, Veenstra G, Fujiyama A, Harland RM, Taira M, Rokhsar DS (2016) Genome evolution in the allotetraploid frog Xenopus laevis , Nature, 538(7625), 336-343 PMID:27762356 doi:10.1038/nature19840

Collaborative works

  • Ismail T, Jeong YG, Lee HK, Lee H, Kim Y, Lee JY, Kim SH, Ryu HY, Kwon TK, Park TJ, Kwon T, Khang D, Lee HS. (2025) In vivo analyses of embryotoxicity and teratogenicity of gold nanoparticles: Emphasis on the surface chemistry and toxicological responses. , Ecotoxicol Environ Saf., 304:119111. PMID:41016142 doi:10.1016/j.ecoenv.2025.119111
  • Kim HE, Kwon T, Sim HJ, Park TJ. (2025) TRAP1 functions in the morphogenesis of the embryonic kidney. , Anim Cells Syst (Seoul)., 29(1):9-18. PMID:40098710 doi:10.1080/19768354.2025.2477789
  • Ismail T, Lee HK, Lee H, Kim Y, Kim E, Lee JY, Kim KB, Ryu HY, Cho DH, Kwon TK, Park TJ, Kwon T, Lee HS. (2023) Early life exposure to perfluorooctanesulfonate (PFOS) impacts vital biological processes in Xenopus laevis: Integrated morphometric and transcriptomic analyses. , Ecotoxicol Environ Saf., 269:115820. PMID:38103469 doi:10.1016/j.ecoenv.2023.115820.
  • Jang DG, Kwon KY, Kweon YC, Kim BG, Myung K, Lee HS, Park CY, Kwon T, Park TJ* (2022) GJA1 depletion causes ciliary defects by affecting Rab11 trafficking to the ciliary base , eLife, 11:e81016 PMID:36004726 doi:10.7554/eLife.81016
  • Lee HK, Ismail T, Kim C, Kim Y, Park JW, Kwon OS, Kang BS, Lee DS, Kwon T, Park TJ, Lee HS (2019) Lysine demethylase 3a in craniofacial and neural development during Xenopus embryogenesis , Int J Mol Med., PMID:30569092 doi:10.3892/ijmm.2018.4024
  • Ji Y, Chae S, Lee HK, Park I, Kim C, Ismail T, Kim Y, Park JW, Kwon OS, Kang BS, Lee DS, Bae JS, Kim SH, Moon PG, Baek MC, Park MJ, Kil IS, Rhee SG, Kim J, Huh YH, Shin JY, Min KJ, Kwon TK, Jang DG, Woo HA, Kwon T, Park TJ, Lee HS (2019) Peroxiredoxin5 controls vertebrate ciliogenesis by modulating mitochondrial ROS , Antioxid. Redox Signal., PMID:30191719 doi:10.1089/ars.2018.7507
  • Chae S, Lee HK, Kim YK, Sim HJ, Ji Y, Kim C, Ismail T, Park JW, Kwon OS, Kang BS, Lee DS, Bae JS, Kim SH, Min KJ, Kwon TK, Park MJ, Han JK, Kwon T, Park TJ, Lee HS (2017) Peroxiredoxin1, a novel regulator of pronephros development, influences retinoic acid and Wnt signaling by controlling ROS levels , Sci Rep., PMID:28827763 doi:10.1038/s41598-017-09262-6

Genomic resources

  • Chu S, Bell AJ, Lotay V, Ly N, Pells TJ, Kwon T, Agalakov S, Ponferrada V, Lenz C, James-Zorn C, Arshinoff B, Segerdell E, Wang D, Thorner K, Wasmuth JD, Fisher M, Karimi K, Zorn AM, Vize PD. (2026) Xenbase: 25 years of integrating molecular and biomedical data from Xenopus. , Genetics., 232(4):iyaf237. PMID:41182265 doi:10.1093/genetics/iyaf237
  • Bredeson JV, Mudd AB, Medina-Ruiz S, Mitros T, Smith OK, Miller KE, Lyons JB, Batra SS, Park J, Berkoff KC, Plott C, Grimwood J, Schmutz J, Aguirre-Figueroa G, Khokha MK, Lane M, Philipp I, Laslo M, Hanken J, Kerdivel G, Buisine N, Sachs LM, Buchholz DR, Kwon T, Smith-Parker H, Gridi-Papp M, Ryan MJ, Denton RD, Malone JH, Wallingford JB, Straight AF, Heald R, Hockemeyer D, Harland RM, Rokhsar DS. (2024) Conserved chromatin and repetitive patterns reveal slow genome evolution in frogs. , Nat Commun., 15(1):579. PMID:38233380 doi:10.1038/s41467-023-43012-9.
  • Mitros T, Lyons JB, Session AM, Jenkins J, Shu S, Kwon T, Lane M, Ng C, Grammer TC, Khokha MK, Grimwood J, Schmutz J, Harland RM, Rokhsar DS (2019) A chromosome-scale genome assembly and dense genetic map for Xenopus tropicalis , Dev. Biol., PMID:30980799 doi:10.1016/j.ydbio.2019.03.015
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