Associate Professor Ph.D. (1998) Columbia University, New York Undergraduate Affairs Committee (Genetics) University Research Animal Resources, Faculty Advisory Committee Developmental Biology Alliance Executive Committee March of Dimes Basil O’Connor Starter Scholar Award Faculty of 1000 member, Pattern Formation Editorial advisory board member: Cilia; Development Current grant support: "Regulation of Hedgehog signaling transcriptional responses by the cell cycle" NIH/NICHD; “Control of TGF-beta signals by Rab23 and Megf8 in mammalian left-right patterning” NIH/NICHD; EDGE: Establishment of genome-editing and transgenic tools in Anolis lizards. (Menke, Eggenschwiler, Lauderdale), NSF Courses Taught at UGA:GENE4310: Genetic Approaches to Developmental Neuroscience; GRSC 7770; BCMB/CBIO/GENE 8112/8113/8212; GENE8880; GENE4950, GENE3200, GENE4230L. Research Interests - Our laboratory is interested in the mechanisms controlling tissue patterning during mammalian embryonic development. Using the mouse as a model, we exploit a combination of reverse and forward genetic approaches to investigate signaling pathways that function in cell fate specification in different contexts. Our work has primarily focused on identification of novel regulators of the Hedgehog signaling pathway acting within the developing central nervous system. In addition, we have recently begun to examine the regulation of Nodal signaling in the control of patterning along the left-right axis of the mouse embryo. Building upon our genetic analyses, we are working to elucidate the specific functions of these novel regulatory factors at the cellular and biochemical levels. Education Education: 1984-1988. B.A., Biology, University of California, Santa Cruz, CA 1990-1998. Ph.D., M. Phil., Department of Genetics and Development, College of Physicians and Surgeons, Columbia University, New York, NY, Dr. Argiris Efstratiadis, advisor 1998- 2003. Postdoctoral Research, Molecular Biology Program, Sloan-Kettering Institute, New York, NY, Dr. Kathryn Anderson, advisor Research Research Areas: Molecular Genetics Developmental Biology Research Interests: Mammalian developmental genetics: mechanisms that control tissue patterns during mammalian embryonic development; signaling pathways that function in cell fate specification; identification of novel regulators of Hedgehog signaling pathways in central nervous system Grants: "Regulation of Hedgehog signaling transcriptional responses by the cell cycle" NIH/NICHD “Control of TGF-beta signals by Rab23 and Megf8 in mammalian left-right patterning” NIH/NICHD "EDGE: Establishment of genome-editing and transgenic tools in Anolis lizards." (Menke, Eggenschwiler, Lauderdale, Co-PIs). NSF Selected Publications Selected Publications: Lupu F, Burnett, J, and Eggenschwiler, J. (2018). Cell cycle-related kinase regulates mammalian eye development through positive and negative regulation of the Hedgehog pathway. Developmental Biology. 2018 Feb 1;434(1):24-35. doi: 10.1016/j.ydbio.2017.10.022. Epub 2017 Nov 21.PMID:29166577. Burnett, J, Lupu, F, and Eggenschwiler, J.T. (2017). Proper ciliary assembly is critical for restricting Hedgehog signaling during early eye development in mice. Dev. Biol. Oct 1;430(1):32-40. doi: 10.1016/j.ydbio.2017.07.012. Epub 2017 Aug 1. PMID: 28778798 Snouffer, A., Brown, D., Lee, H., Walsh, J. D., Lupu, F. L., Norman, R., Lechtreck,, K., Ko, H.W., and Eggenschwiler, J. (2017). Cell Cycle-Related Kinase (CCRK) regulates ciliogenesis and Hedgehog signaling in mice. PLoS Genetics Aug 17;13(8):e1006912. doi: 10.1371/journal.pgen.1006912. eCollection 2017 Aug. PMID: 28817564 Sornborger, A. T., Li, J., Timmons, C., Lupu, F., Eggenschwiler, J., Takahama, Y., and Manley, N. R. (2017). MiCASA: A new method for quantifying tissue organization. Nat. Commun. May 30;8:15619. doi: 10.1038/ncomms15619. Wingfield. J.L., Mengoni I., Bomberger, H., Jiang, Y., Walsh, J.D., Brown, J.M., Picariello, T., Cochran, D.A., Zhu, B., Pan, J., Eggenschwiler, J.T., Gaertig, J., Witman, G.B., Kner, P., and Lechtreck, K. (2017). IFT trains in different stages of assembly queue at the flagellar base for consecutive release into cilia. eLife. May 31;6. pii: e26609. doi: 10.7554/eLife.26609. Moon, H., Song, J. Jeong-Oh Shin, J-O, Lee, H., Kim, H-K, Eggenschwiler, J., Bok, J. and Ko, H.W. (2014). The endocrine-cerebro-osteodysplasia (ECO) syndrome protein, intestinal cell kinase is a key regulator of ciliary length control and Hedgehog signaling. Proc. Natl. Acad. Sci. U.S.A, Jun 10;111(23):8541-6. Fuller, K.P., Tse, J., Mauti, O., and Eggenschwiler, J.T. (2014) Rab23 regulates Nodal signaling in left-right patterning of the mouse embryo. Dev. Biol. Jul 15;391(2) Eggenschwiler, J.T. and Liu, A. (2014) Identifying essential genes in mouse development via an ENU-based forward genetic approach. Meth. Mol. Biol.;1092:95-118. Eggenschwiler J.T. (2012). Hedgehog signaling and the cilium: in the zone. Dev Cell. 23: 677-8. Ochbina P.J.R., J.T. Eggenschwiler, I. Moskowitz and K.V. Anderson (2011). Complex Interactions Between Genes Controlling Trafficking in Primary Cilia. Nat. Genet. 43: 547-53. Qin, J., Y. Lin, H.W. Ko and J.T. Eggenschwiler (2011). IFT122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components. Proc. Natl. Acad. Sci. 108: 1456-61. Ko H.W., R.X. Norman, J. Tran, K.P. Fuller, M. Fukuda and J.T. Eggenschwiler (2010). Broad-minded links cell cycle-related kinase to cilia assembly and Hedgehog signal transduction. Dev. Cell 18: 237-247. Walczak-Sztulpa J., J.T. Eggenschwiler, D. Osborn, D. Brown, F. Emma, C. Klingenberg, R.C. Hennekam, T. Giuliano, M. Garshasbi, A. Tzschach, M. Szczepanska, M. Krawczynski, J. Zachwieja, Zwolinska, P.L. Beales, H. Ropers, A. Latos-Bielenska and A. Kuss (2010). Cranioectodermal dysplasia (Sensenbrenner Syndrome) is a ciliopathy caused by mutations in the IFT122 gene. Am. J. Hum. Genet. 86: 949-56. Norman R.X., H.W. Ko, V. Huang, C.M. Eun, L.L. Abler, Z. Zhang, X. Sun and J.T. Eggenschwiler (2009). Tubby-like protein 3 (TULP3) regulates patterning in the mouse embryo through inhibition of Hedgehog signaling. Hum. Mol. Genet. 18: 1740-54. Ko H.W., A. Liu and J.T. Eggenschwiler (2009). Analysis of hedgehog signaling in mouse intraflagellar transport mutants. Meth. Cell Biol. Vol. 93. Eds: King, S.M. and Pazour, G.P. ISBN: 978-0-12-381377-0 Cho A., H.W. Ko and J.T. Eggenschwiler (2008). FKBP8 cell-autonomously controls neural tube patterning through a Gli2- and Kif3a-dependent mechanism. Dev. Biol. 321: 27-39. Eggenschwiler J.T. and K.V. Anderson (2007). Cilia and Developmental Signaling. Ann. Rev. Cell Dev. Biol. 23: 345-73. Eggenschwiler, J.T., J. Qin, O. Bulgakov, T. Li and K.V. Anderson. (2006). Mouse Rab23 regulates Hedgehog signaling from Smoothened to Gli proteins. Dev. Biol. 290: 1-12. Garcia-Garcia, M.J., J.T. Eggenschwiler, T. Caspary, H.L. Alcorn, M.W. Wyler, D. Huangfu, A.S. Rakeman, J.D. Lee, E.H. Feinberg, J.R. Timmer and K.V. Anderson (2005). Analysis of mouse embryonic patterning and morphogenesis by forward genetics. Proc. Natl. Acad. Sci. 102: 5913-9. Bulgakov, O.V. *, J.T. Eggenschwiler*, D. Hong, K.V. Anderson and T. Li. (2004). FKBP8 is a neural-specific negative regulator of Sonic hedgehog signaling. Development 131: 2149-59. * Equal contribution Caspary, T., M.J. Garcia-Garcia, D. Huangfu, J.T. Eggenschwiler, M.W. Wyler, A.S. Rakeman, H.L. Alcorn and K.V. Anderson (2002). Mouse Dispatched homologue1 is required for long-range but not juxtacrine Hh signaling. Curr. Biol. 12: 1628-32. Eggenschwiler, J.T., E. Espinoza and Anderson, K.V. (2001). Rab23 is an essential negative regulator of the mouse Sonic hedgehog signaling pathway. Nature 412: 194-8. Eggenschwiler, J.T. and K. Anderson (2000). Dorsal and lateral fates in the mouse neural tube require the cell-autonomous activity of the open brain gene. Dev. Biol. 227: 648-660. Eggenschwiler, J.T., T. Ludwig, P. Fisher, P. Leighton, S. Tilghman and A. Efstratiadis (1997). Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. Genes Dev. 11: 3128-3142. Ludwig, T., J. Eggenschwiler, P. Fisher, A.J. D'Ercole, M.L. Davenport and A. Efstratiadis (1996). Mouse mutants lacking the type 2 IGF receptor (IGF2R) are rescued from perinatal lethality in Igf2 and Igf1r null backgrounds. Dev. Biol. 177: 517-35. Leighton, P.A., R.S. Ingram, J. Eggenschwiler, A. Efstratiadis and S.M. Tilghman (1995). Disruption of imprinting caused by deletion of the H19 gene region in mice. Nature 375: 34-9.