title: A disrupted homologue of the human CLN3 or juvenile neuronal ceroid lipofuscinosis gene in Saccharomyces cerevisiae: a model to study Batten disease.
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.
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: W X
authors.initials: WX
authors.lastname: Guo
authors.forename: C
authors.initials: C
authors.lastname: Mao
authors.forename: L M
authors.initials: LM
authors.lastname: Obeid
authors.forename: R M
authors.initials: RM
authors.lastname: Boustany
mesh_terms: D000471:Alkalosis / Q000503:physiopathology; D000970:Antineoplastic Agents / Q000494:pharmacology; D016213:Cyclins / Q000235:genetics; D004791:Enzyme Inhibitors / Q000494:pharmacology; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics* / Q000503:physiopathology; D009840:Oligomycins / Q000494:pharmacology; D011506:Proteins / Q000235:genetics* / Q000502:physiology; D012441:Saccharomyces cerevisiae / Q000187:drug effects / Q000235:genetics*; D029701:Saccharomyces cerevisiae Proteins / Q000235:genetics
chemical_list: D000970:Antineoplastic Agents; C105199:CLN3 protein, human; D016213:Cyclins; D004791:Enzyme Inhibitors; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D009840:Oligomycins; D011506:Proteins; D029701:Saccharomyces cerevisiae Proteins; C489809:YHC3 protein, S cerevisiae