title: Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: functional implications for CLN3.
abstract: The neuronal ceroid lipofuscinoses (NCLs) are the most common neurodegenerative disorders of childhood. We have examined mRNA levels of the CLN1, CLN2, and CLN3 genes, which are associated with the infantile, late infantile, and juvenile forms of NCL in 64 different human tissues, and have grouped the results into gastrointestinal tract, central nervous system, glandular/secretory, muscle, and carcinoma tissue types. mRNA levels for CLN3 are highest in gastrointestinal tissue and are also high in glandular/secretory tissue, whereas mRNA levels for CLN1 and CLN2 do not appear to be preferentially elevated in any tissue type. The significance of extraneural expression of CLN3 is reviewed in the context of the function of the protein.
authors.affiliation: Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA.
authors.forename: S
authors.initials: S
authors.lastname: Chattopadhyay
authors.forename: D A
authors.initials: DA
authors.lastname: Pearce
mesh_terms: D000626:Aminopeptidases; D002648:Child; D004064:Digestive System / Q000378:metabolism; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; D010450:Endopeptidases; D005260:Female; D015870:Gene Expression; D006801:Humans; D007223:Infant; D008297:Male; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D009410:Nerve Degeneration; D009420:Nervous System / Q000378:metabolism; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics* / Q000378:metabolism; D010447:Peptide Hydrolases / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D057057:Serine Proteases; D014018:Tissue Distribution; D000091346:Tripeptidyl-Peptidase 1
chemical_list: C105199:CLN3 protein, human; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D011506:Proteins; D012333:RNA, Messenger; D000091346:Tripeptidyl-Peptidase 1; D010450:Endopeptidases; D010447:Peptide Hydrolases; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human