title: A yeast model for the study of Batten disease.
abstract: Although the CLN3 gene for Batten disease, the most common inherited neurovisceral storage disease of childhood, was identified in 1995, the function of the corresponding protein still remains elusive. We previously cloned the Saccharomyces cerevisiae homologue to the human CLN3 gene, designated BTN1, which is not essential and whose product is 39% identical and 59% similar to Cln3p. We report that btn1-Delta deletion yeast strains are more resistant to D-(-)-threo-2-amino-1-[p-nitrophenyl]-1,3-propanediol (denoted ANP), a phenotype that is complemented in yeast by the human CLN3 gene. Furthermore, the severity of Batten disease in humans and the degree of ANP resistance in yeast are related when the equivalent amino acid replacements in Cln3p and Btn1p are compared. These results indicate that yeast can be used as a model for the study of Batten disease.
authors.affiliation: Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA. dpea@bphvax.biophysics.rochester.edu
authors.forename: D A
authors.initials: DA
authors.lastname: Pearce
authors.forename: F
authors.initials: F
authors.lastname: Sherman
mesh_terms: D002701:Chloramphenicol / Q000031:analogs & derivatives / Q000494:pharmacology; D016213:Cyclins; D004352:Drug Resistance, Microbial; D017353:Gene Deletion; D015966:Gene Expression Regulation, Fungal; D005800:Genes, Fungal; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics; D018832:Molecular Chaperones / Q000235:genetics; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D011500:Protein Synthesis Inhibitors / Q000494:pharmacology; D012441:Saccharomyces cerevisiae / Q000187:drug effects / Q000235:genetics*; D029701:Saccharomyces cerevisiae Proteins
chemical_list: C079895:CLN3 protein, S cerevisiae; C105199:CLN3 protein, human; D016213:Cyclins; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D011500:Protein Synthesis Inhibitors; D029701:Saccharomyces cerevisiae Proteins; C489809:YHC3 protein, S cerevisiae; D002701:Chloramphenicol