Patsy Nishina


University of California, Davis, 1984-1988, Ph.D

Research Interest

Approximately 50 million people worldwide are blind and ~150 million are significantly vision-impaired. Except for trauma and infections, the majority of human eye diseases are genetic in nature. Initially, the goal of our research program was to use mouse models as an entry point to identify the molecules that were essential for normal retinal development and function through positional cloning efforts. We have identified the molecular basis of >100 models, discovered through spontaneous and chemically induced screening.

With the maturation of our program, we have begun to focus on using these models to study gene function and mechanisms underlying disease pathology. Knowledge of genetic modifiers and interaction partners is critically important in understanding the pathways that lead from a primary genetic defect to an observable phenotype. The overriding theme of our program currently is the elucidation of interactions that occur among molecules to identify common functional pathways as well as pathways that lead to disease and are impacted by primary mutations. We employ a blend of marker analyses, noninvasive imaging, functional studies, and generation of mouse resources that aim toward a greater understanding of the function and pathways in which the mutant retinal molecules we have identified act.

Selected Publications

  • Gogna N, Weatherly S, Zhao F, Collin GB, Pinkney J, Stone L, Naggert JK, Carter GW, Nishina PM. Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes. Int J Mol Sci. 2022 Jan 30;23(3):1615. doi: 10.3390/ijms23031615.
  • Yang Y, Li X, Wang J, Tan J, Fitzmaurice B, Nishina PM, Sun K, Tian W, Liu W, Liu X, Chang B, Zhu X. A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis. Cell Death Dis. 2021 Oct 29;12(11):1017. doi: 10.1038/s41419-021-04331-1.
  • Collin GB, Gogna N, Chang B, Damkham N, Pinkney J, Hyde LF, Stone L, Naggert JK, Nishina PM, Krebs MP. Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells. 2020 Apr 10;9(4):931. doi: 10.3390/cells9040931
  • Song JY, Aravand P, Nikonov S, Leo L, Lyubarsky A, Bennicelli JL, Pan J, Wei Z, Shpylchak I, Herrera P, Bennett DJ, Commins N, Maguire AM, Pham J, den Hollander AI, Cremers FPM, Koenekoop RK, Roepman R, Nishina P, Zhou S, Pan W, Ying GS, Aleman TS, de Melo J, McNamara I, Sun J, Mills J, Bennett J. Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness. Mol Ther. 2018 Jun 6;26(6):1581-1593. doi: 10.1016/j.ymthe.2018.03.015.
  • Krebs MP, Collin GB, Hicks WL, Yu M, Charette JR, Shi LY, Wang J, Naggert JK, Peachey NS, Nishina PM. 2017. Mouse models of human ocular disease for translational research. PLoS One 12(8): e0183837.  PMCID: PMC5578669.
  • Charette JR, Earp SE, Bell BA, Ackert-Bicknell CL, Godfrey DA, Rao S, Anand-Apte B, Nishina PM, Peachey NS. 2017. A mutagenesis-derived Lrp5 mouse mutant with abnormal retinal vasculature and low bone mineral density. Mol Vis 23: 140-148.  PMCID: PMC5360454.
  • Greenwald SH, Charette JR, Staniszewska M, Shi LY, Brown SD, Stone L, Liu Q, Hicks WL, Collin GB, Bowl MR, Krebs MP, Nishina PM, Pierce EA. 2016. Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. Am J Pathol 186(7): 1925-1938.  PMCID: PMC4929402.
  • Krebs MP, Xiao M, Sheppard K, Hicks W, Nishina PM. 2016. Bright-Field Imaging and Optical Coherence Tomography of the Mouse Posterior Eye. Methods Mol Biol 1438: 395-415.
  • Ji X, Liu Y, Hurd R, Wang J, Fitzmaurice B, Nishina PM, Chang B. 2016. Retinal Pigment Epithelium Atrophy 1 (rpea1): A New Mouse Model With Retinal Detachment Caused by a Disruption of Protein Kinase C, theta. Invest Ophthalmol Vis Sci 57(3): 877-888.  PMCID: PMC4794085.
  • Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI. 2016. Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. Nat Genet 48(2): 144-151.  PMCID: PMC4787620.
  • Zhao L, Spassieva S, Gable K, Gupta SD, Shi LY, Wang J, Bielawski J, Hicks WL, Krebs MP, Naggert J, Hannun YA, Dunn TM, Nishina PM. 2015. Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration. Proc Natl Acad Sci U S A 112(42): 12962-12967.  PMCID: PMC4620873.
  • Ji X, Chang B, Naggert JK, Nishina PM. 2016. Lysosomal Trafficking Regulator (LYST). Adv Exp Med Biol 854: 745-750.
  • Charette JR, Samuels IS, Yu M, Stone L, Hicks W, Shi LY, Krebs MP, Naggert JK, Nishina PM, Peachey NS. 2016. A Chemical Mutagenesis Screen Identifies Mouse Models with ERG Defects. Adv Exp Med Biol 854: 177-183.
  • Collin GB, Hubmacher D, Charette JR, Hicks WL, Stone L, Yu M, Naggert JK, Krebs MP, Peachey NS, Apte SS, Nishina PM. 2015. Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation. Hum Mol Genet 24(24): 6958-6974.  PMCID: PMC4654052.
  • Maddox DM, Collin GB, Ikeda A, Pratt CH, Ikeda S, Johnson BA, Hurd RE, Shopland LS, Naggert JK, Chang B, Krebs MP, Nishina PM. 2015. A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Muller Glia. Invest Ophthalmol Vis Sci 56(6): 3776-3787.  PMCID: PMC4468423.
  • Soundararajan R, Won J, Stearns TM, Charette JR, Hicks WL, Collin GB, Naggert JK, Krebs MP, Nishina PM. 2014. Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs. PLoS One 9(10): e110299.  PMCID: PMC4214712.
  • Song D, Grieco S, Li Y, Hunter A, Chu S, Zhao L, Song Y, DeAngelis RA, Shi LY, Liu Q, Pierce EA, Nishina PM, Lambris JD, Dunaief JL. 2014. A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration. Am J Pathol 184(10): 2721-2729.  PMCID: PMC4188862.
  • Low BE, Krebs MP, Joung JK, Tsai SQ, Nishina PM, Wiles MV. 2014. Correction of the Crb1rd8 allele and retinal phenotype in C57BL/6N mice via TALEN-mediated homology-directed repair. Invest Ophthalmol Vis Sci 55(1): 387-395.  PMCID: PMC3921157.
  • Won J, Charette JR, Philip VM, Stearns TM, Zhang W, Naggert JK, Krebs MP, Nishina PM. 2014. Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis. Exp Eye Res 118: 30-35.  PMCID: PMC4153418.

Dissertation Students

Patsy Nishina

Yang Kong