title: Caenorhabditis elegans homologues of the CLN3 gene, mutated in juvenile neuronal ceroid lipofuscinosis.
abstract: Neuronal ceroid lipofuscinoses (NCLs) are the most common hereditary neurodegenerative disorders of childhood. The first symptom of this heterogeneous group of devastating lysosomal storage diseases is progressive visual failure. The different forms of NCL can be distinguished by age of onset, clinical features and the characteristics of the accumulated materials. The juvenile form, Batten-Spielmeyer-Vogt disease which is caused by mutations in the CLN3 gene, is the most frequent form of the disease in which loss of vision becomes apparent around the age of 5-8 years. The gene was found to encode a novel integral membrane protein localizing to the lysosomes, confirming that the primary defect in NCL is in lysosomal function. The CLN3 protein function is still unknown, and is examined in several model organisms. We are studying the nematode Caenorhabditis elegans, and have identified three CLN3 homologues. In order to investigate the role of the CLN3 protein in C. elegans, Cecln-3 deletion mutants are being isolated from an ethyl methanesulphonate (EMS)-induced deletion mutant library. Examination of these mutants may provide us with information that will help in dissecting the processes in which the CLN3 protein is involved. In this library two mutated C. elegans Cln-3 loci have been identified, of which one mutant, NL748, was isolated. This mutant contains a deletion of the whole gene. The deletion mutant was characterized with regard to life expectancy, and showed no significant differences when compared with wild-type.
authors.affiliation: Department of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
authors.forename: G
authors.initials: G
authors.lastname: De Voer
authors.forename: G
authors.initials: G
authors.lastname: Jansen
authors.forename: G J
authors.initials: GJ
authors.lastname: van Ommen
authors.forename: D J
authors.initials: DJ
authors.lastname: Peters
authors.forename: P E
authors.initials: PE
authors.lastname: Taschner
mesh_terms: D000818:Animals; D017173:Caenorhabditis elegans / Q000235:genetics*; D017353:Gene Deletion; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D008969:Molecular Sequence Data; D016296:Mutagenesis; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
chemical_list: C105199:CLN3 protein, human; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D011506:Proteins