title: Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3.
abstract: We recently cloned a cDNA for CLN3, the gene for juvenile-onset neuronal ceroid lipofuscinosis or Batten disease. To resolve the genomic organization we used a cosmid clone containing CLN3 to sequence the entire gene in addition to 1.1 kb 5' of the start of the published CLN3 cDNA and 0.3 kb 3' to the polyadenylation site. CLN3 is 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 repetitive Alu elements are present within the introns and 5'- and 3'-untranslated regions. The 5' region of the CLN3 gene contains several potential transcription regulatory elements but no consensus TATA-1 box was identified. CLN3 is 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 published CLN3 cDNA.
authors.affiliation: Department of Paediatrics, University College London Medical School, Rayne Institute, United Kingdom.
authors.forename: H M
authors.initials: HM
authors.lastname: Mitchison
authors.forename: P B
authors.initials: PB
authors.lastname: Munroe
authors.forename: A M
authors.initials: AM
authors.lastname: O'Rawe
authors.forename: P E
authors.initials: PE
authors.lastname: Taschner
authors.forename: N
authors.initials: N
authors.lastname: de Vos
authors.forename: G
authors.initials: G
authors.lastname: Kremmidiotis
authors.forename: I
authors.initials: I
authors.lastname: Lensink
authors.forename: A C
authors.initials: AC
authors.lastname: Munk
authors.forename: K L
authors.initials: KL
authors.lastname: D'Arigo
authors.forename: J W
authors.initials: JW
authors.lastname: Anderson
authors.forename: T J
authors.initials: TJ
authors.lastname: Lerner
authors.forename: R K
authors.initials: RK
authors.lastname: Moyzis
authors.forename: D F
authors.initials: DF
authors.lastname: Callen
authors.forename: M H
authors.initials: MH
authors.lastname: Breuning
authors.forename: N A
authors.initials: NA
authors.lastname: Doggett
authors.forename: R M
authors.initials: RM
authors.lastname: Gardiner
authors.forename: S E
authors.initials: SE
authors.lastname: Mole
mesh_terms: D001483:Base Sequence; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons / Q000235:genetics; D015870:Gene Expression; D005796:Genes / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D008969:Molecular Sequence Data; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics*; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid
chemical_list: C105199:CLN3 protein, human; D018076:DNA, Complementary; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D011506:Proteins