Article

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.
Human Molecular Genetics (impact factor: 7.64). 04/1999; 8(3):523-31. pp.523-31
Source: PubMed

ABSTRACT 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.

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Keywords

Batten disease protein
 
cell line
 
CLN3 -GFP DNA
 
COS-7 cells
 
eight amino acid peptide tag
 
functional implications
 
green fluorescence protein
 
integral membrane protein
 
intracellular protein transport disruption
 
juvenile neuronal ceroid lipofuscinosis
 
novel 438 amino acid protein
 
Protein constructs incorporating CLN3p fused
 
punctate vesicular distribution
 
recessive neurodegenerative disorder
 
stably transfected cell line
 
subcellular localization
 
three cell types
 
transiently transfected cells
 
transiently transfected cells exhibited
 
unknown function