A disrupted homologue of the human CLN3 or juvenile neuronal ceroid lipofuscinosis gene in Saccharomyces cerevisiae: a model to study Batten disease

Cell Mol Neurobiol. 1999 Oct;19(5):671-80. doi: 10.1023/a:1006992704108.

Abstract

1. In order to investigate the biological function of the human CLN3 gene that is defective in Batten disease, we created a yeast strain by PCR-targeted disruption of the yeast gene (YHC3), which is a homologue of the human CLN3 gene. 2. The phenotypic characterization revealed that the yhc3 delta mutants are more sensitive to combined heat and alkaline stress than the wild-type strains as determined by inhibition of cell proliferation. 3. This suggests that the yhc3 delta mutant is a good model to investigate the biological function of human CLN3 gene in mammalian cells and to understand the pathophysiology of juvenile Batten disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alkalosis / physiopathology
  • Antineoplastic Agents / pharmacology
  • Cyclins / genetics
  • Enzyme Inhibitors / pharmacology
  • Humans
  • Hydrogen-Ion Concentration
  • Membrane Glycoproteins*
  • Molecular Chaperones*
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Neuronal Ceroid-Lipofuscinoses / physiopathology
  • Oligomycins / pharmacology
  • Proteins / genetics*
  • Proteins / physiology
  • Saccharomyces cerevisiae / drug effects
  • Saccharomyces cerevisiae / genetics*
  • Saccharomyces cerevisiae Proteins / genetics

Substances

  • Antineoplastic Agents
  • CLN3 protein, human
  • Cyclins
  • Enzyme Inhibitors
  • Membrane Glycoproteins
  • Molecular Chaperones
  • Oligomycins
  • Proteins
  • Saccharomyces cerevisiae Proteins
  • YHC3 protein, S cerevisiae