Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/11454
Citations | ||
Scopus | Web of Science® | Altmetric |
---|---|---|
?
|
?
|
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. |
DOI: | 10.1006/geno.1996.4576 |
Published version: | http://www.sciencedirect.com/science/journal/08887543 |
Appears in Collections: | Aurora harvest 2 Genetics publications Paediatrics publications |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.