Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3

Journal Article · Sat Mar 01 04:00:00 EST 1997 · Genomics

DOI:https://doi.org/10.1006/geno.1996.4576· OSTI ID:518483

Mitchison, H M; Munroe, P B; O`Rawe, A M ^[1]

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1. Rayne Inst., London (United Kingdom); and others

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{prime} of the start of the published CLN3 cDNA and 0.3 kb 3{prime} 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 GTAG rule. Numerous repetitive Alu elements are present within the introns and 5{prime}- and 3{prime}-untranslated regions. The 5{prime} 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. 19 refs., 2 figs., 1 tab.

• OSTI ID: 518483
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 2 Vol. 40; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AGE DEPENDENCE
CHILDREN
COSMIDS
D CODES
DNA SEQUENCING
DNA-CLONING
EXONS
GENE MUTATIONS
GENES
HEREDITARY DISEASES
INTRONS
NERVOUS SYSTEM DISEASES
NUCLEOTIDES
PATIENTS
POLYMERASE CHAIN REACTION
SPLICING
STRUCTURE-ACTIVITY RELATIONSHIPS
TRANSCRIPTION