Human Molecular Genetics, Vol 8, 523-531, Copyright © 1999 by Oxford University Press
G Kremmidiotis, IL Lensink, RL Bilton, E Woollatt, TK Chataway, GR Sutherland and DF Callen
Batten disease (juvenile neuronal ceroid lipofuscinosis) is a recessive
neurodegenerative disorder of childhood. The gene, CLN3, was recently
identified and found to encode a novel 438 amino acid protein of unknown
function. In order to gain insight into the function of the Batten disease
protein (CLN3p), we investigated its subcellular localization. Protein
constructs incorporating CLN3p fused to the green fluorescence protein or
an eight amino acid peptide tag were transiently expressed in fibroblasts,
HeLa and COS-7 cells. A juxtanuclear, asymmetric localization pattern was
observed that correlated with the Golgi apparatus in all three cell types.
However, a proportion of transiently transfected cells exhibited a punctate
vesicular distribution throughout the cytoplasm in addition to or without
the Golgi localization. In order to account for localization patterns
arising from intracellular protein transport disruption due to exaggerated
overexpression in transiently transfected cells, we isolated a stably
transfected cell line expressing only one copy of the CLN3 -GFP DNA
construct. Fluorescence and biochemical analyses using this cell line
demonstrated that CLN3p is an integral membrane protein that localizes
primarily in the Golgi apparatus. The functional implications of this
finding are discussed.
ARTICLES
The Batten disease gene product (CLN3p) is a Golgi integral membrane protein
Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, 72 King William Road, Adelaide, SA 5006, Australia. gkremmid@pulse.adelaide.edu.au
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  S. Codlin and S. E. Mole S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p J. Cell Sci., April 15, 2009; 122(8): 1163 - 1173. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Mukhopadhyay, F. Xu, and P. B. Sehgal Aberrant cytoplasmic sequestration of eNOS in endothelial cells after monocrotaline, hypoxia, and senescence: live-cell caveolar and cytoplasmic NO imaging Am J Physiol Heart Circ Physiol, March 1, 2007; 292(3): H1373 - H1389. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Kyttala, K. Yliannala, P. Schu, A. Jalanko, and J. P. Luzio AP-1 and AP-3 Facilitate Lysosomal Targeting of Batten Disease Protein CLN3 via Its Dileucine Motif J. Biol. Chem., March 18, 2005; 280(11): 10277 - 10283. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C Cazeneuve, S Papin, I Jeru, P Duquesnoy, and S Amselem Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC J. Med. Genet., March 1, 2004; 41(3): e24 - 24. [Full Text] [PDF]
|
|
|
|
 |
|
 R. M. Sappington, D. A. Pearce, and D. J. Calkins Optic Nerve Degeneration in a Murine Model of Juvenile Ceroid Lipofuscinosis Invest. Ophthalmol. Vis. Sci., September 1, 2003; 44(9): 3725 - 3731. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D.-A. N. W. Persaud-Sawin, A. VanDongen, and R.-M. N. Boustany Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis Hum. Mol. Genet., September 1, 2002; 11(18): 2129 - 2142. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Isosomppi, J. Vesa, A. Jalanko, and L. Peltonen Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein Hum. Mol. Genet., April 15, 2002; 11(8): 885 - 891. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Luiro, O. Kopra, M. Lehtovirta, and A. Jalanko CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease Hum. Mol. Genet., September 1, 2001; 10(19): 2123 - 2131. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Papin, P. Duquesnoy, C. Cazeneuve, J. Pantel, M. Coppey-Moisan, C. Dargemont, and S. Amselem Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus Hum. Mol. Genet., December 1, 2000; 9(20): 3001 - 3009. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. E. Haskell, C. J. Carr, D. A. Pearce, M. J. Bennett, and B. L. Davidson Batten disease: evaluation of CLN3 mutations on protein localization and function Hum. Mol. Genet., March 22, 2000; 9(5): 735 - 744. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. Tidow, X. Chen, C. Muller, S. Kawano, A. F. Gombart, N. Fischel-Ghodsian, and H. P. Koeffler Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin Blood, February 15, 2000; 95(4): 1451 - 1455. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. C. Patterson Screening for "Prelysosomal Disorders": Carbohydrate-Deficient Glycoprotein Syndromes J Child Neurol, November 1, 1999; 14(1_suppl): S16 - S22. [Abstract] [PDF]
|
|