title: CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3-/- mice and in Batten disease.
abstract: Batten disease is a severe autosomal recessive neurodegenerative disease which results from mutations in CLN3. Although the gene was cloned in 1995, the tissue distribution and subcellular localization of the CLN3 protein (CLN3P) remains inconclusive. We have demonstrated the presence of a novel 33 kDa protein in both normal human and wild-type mouse brain. This 33 kDa protein, which is overexpressed in brains of patients with Batten disease and in Cln3-/- mouse brain, binds to the antibody raised against the peptide sequence of CLN3P and results in aberrant CLN3P localization studies. We expressed a novel 33 kDa protein that is highly similar to CLN3P. We showed that the 33 kDa protein is identical to that recognized in Batten disease and Cln3-/- brain. These studies strongly suggest the presence of an alternative CLN3-like (CLN3L) product in Batten disease. Previous studies of CLN3P tissue distribution and intracellular localization will require extensive reanalysis in order to determine the true expression of CLN3P.
authors.affiliation: Department of Pathology and Pediatrics, University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75390, USA.
authors.forename: Srinivas B
authors.initials: SB
authors.lastname: Narayan
authors.forename: Johanne V
authors.initials: JV
authors.lastname: Pastor
authors.forename: Hannah M
authors.initials: HM
authors.lastname: Mitchison
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Bennett
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D015152:Blotting, Northern; D015153:Blotting, Western; D018076:DNA, Complementary / Q000235:genetics; D004926:Escherichia coli / Q000378:metabolism; D015870:Gene Expression; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics / Q000378:metabolism*; D051379:Mice; D018345:Mice, Knockout; D018832:Molecular Chaperones / Q000235:genetics / Q000378:metabolism*; D008969:Molecular Sequence Data; D009472:Neuronal Ceroid-Lipofuscinoses / Q000378:metabolism*; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016415:Sequence Alignment; D014018:Tissue Distribution
chemical_list: C105199:CLN3 protein, human; C102229:CLN3 protein, mouse; D018076:DNA, Complementary; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D012333:RNA, Messenger