Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/11454
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Type: Journal article
Title: Genomic structure and complete nucleotide sequence of the Batten Disease Gene, CLN3
Author: Mitchison, H.
Munroe, P.
O'Rawe, A.
Taschner, P.
De Vos, N.
Kremmidiotis, G.
Lensink, I.
Munk, A.
D'Arigo, K.
Anderson, J.
Lerner, T.
Moyzis, R.
Callen, D.
Breuning, M.
Doggett, N.
Gardiner, R.
Mole, S.
Citation: Genomics, 1997; 40(2):346-350
Publisher: Elsevier
Issue Date: 1997
ISSN: 0888-7543
1089-8646
Statement of
Responsibility: 
Hannah M. Mitchison, Patricia B. Munroe, Angela M. O'Rawe, Peter E.M. Taschner, Nanneke de Vos, Gabriel Kremmidiotis, Ingrid Lensink, A.Christine Munk, Kenneth L D'Arigo, John W. Anderson, Terry J. Lerner, f, Robert K. Moyzis, David F. Callen, Martijn H. Breuning, Norman A. Doggett, R.Mark Gardiner and Sara E. Mole
Abstract: We recently cloned a cDNA forCLN3,the gene for juvenile-onset neuronal ceroid lipofuscinosis or Batten disease. To resolve the genomic organization we used a cosmid clone containingCLN3to sequence the entire gene in addition to 1.1 kb 5′ of the start of the publishedCLN3cDNA and 0.3 kb 3′ to the polyadenylation site.CLN3is organized into at least 15 exons spanning 15 kb and ranging from 47 to 356 bp. The 14 introns vary from 80 to 4227 bp, and all exon/intron junction sequences conform to the GT/AG rule. Numerous repetitiveAluelements are present within the introns and 5′- and 3′-untranslated regions. The 5′ region of theCLN3gene contains several potential transcription regulatory elements but no consensus TATA-1 box was identified.CLN3is homologous to 27 deposited human ESTs, and sequence comparisons suggest alternative splicing of the gene and the existence of transcribed sequences upstream to the start of the publishedCLN3cDNA.
Keywords: Humans; Proteins; Membrane Glycoproteins; Molecular Chaperones; DNA, Complementary; Restriction Mapping; Cloning, Molecular; Sequence Analysis, DNA; Gene Expression; Base Sequence; Regulatory Sequences, Nucleic Acid; Sequence Homology, Nucleic Acid; Genes; Introns; Exons; Molecular Sequence Data; Neuronal Ceroid-Lipofuscinoses
Description: Available online 18 April 2002.
Rights: Copyright © 1997 Academic Press. All rights reserved.
RMID: 0030004298
DOI: 10.1006/geno.1996.4576
Published version: http://www.sciencedirect.com/science/journal/08887543
Appears in Collections:Genetics publications
Paediatrics publications

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