title: Neuronal ceroid lipofuscinosis genes, CLN2, CLN3 and CLN5 are spatially and temporally co-expressed in a developing mouse brain.
abstract: Neuronal ceroid lipofuscinosis (NCL) diseases consist of a group of genetically inherited neurodegenerative disorders that share common symptoms such as seizures, psychomotor retardation, blindness, and premature death. Although gene defects behind the NCL diseases are well characterized, very little is known how these defects affect normal development of the brain and cause the pathology of the disease. To obtain understanding of the development of the cell types that are mostly affected by defective function of CLN proteins, timing of expression of CLN2, CLN3 and CLN5 genes was investigated in developing mouse brain. The relationship between the expression pattern and the developmental stage of the brain showed that these genes are co-expressed spatially and temporally during brain development. Throughout the development strong expression of the three mRNAs was detected in germinal epithelium and in ventricle regions, hippocampus and cerebellum, all representing regions that are known to be associated with the formation of new neurons. More specifically, RT-PCR studies on developing mouse cortices revealed that the CLN genes were temporally co-expressed in the neural progenitor cells together with known stem cell markers. This suggested that CLN2, CLN3 and CLN5 genes may play an important role in early embryonal neurogenesis.
authors.affiliation: Department of Applied Biology, University of Helsinki, Finland; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
authors.forename: A-L
authors.initials: AL
authors.lastname: Fabritius
authors.affiliation: Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
authors.forename: J
authors.initials: J
authors.lastname: Vesa
authors.affiliation: Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
authors.forename: H M
authors.initials: HM
authors.lastname: Minye
authors.affiliation: Department of Molecular and Medical Pharmacology and Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
authors.forename: I
authors.initials: I
authors.lastname: Nakano
authors.affiliation: Department of Molecular and Medical Pharmacology and Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
authors.forename: H
authors.initials: H
authors.lastname: Kornblum
authors.affiliation: Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA; Department of Molecular Medicine, Biomedicum, National Public Health Institute, PO Box 104, FIN 00300 Helsinki, Finland.
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D000626:Aminopeptidases / Q000096:biosynthesis*; D000818:Animals; D001921:Brain / Q000196:embryology* / Q000378:metabolism; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / Q000096:biosynthesis*; D018507:Gene Expression Regulation, Developmental; D007150:Immunohistochemistry; D017403:In Situ Hybridization; D051907:Lysosomal Membrane Proteins; D008562:Membrane Glycoproteins / Q000096:biosynthesis*; D051379:Mice; D008810:Mice, Inbred C57BL; D018832:Molecular Chaperones / Q000096:biosynthesis*; D058953:Neural Stem Cells / Q000378:metabolism*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D057057:Serine Proteases / Q000096:biosynthesis*; D059467:Transcriptome; D000091346:Tripeptidyl-Peptidase 1
chemical_list: C102229:CLN3 protein, mouse; C488572:Cln5 protein, mouse; D051907:Lysosomal Membrane Proteins; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; C000717268:Tpp1 protein, mouse; D000091346:Tripeptidyl-Peptidase 1; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human
keywords: CLN; Development; Neurogenesis; Neurogenetics; Neuronal progenitor; Neuropathology