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

Mitchison, H M; Munroe, P B; O'Rawe, A M; Taschner, P E; de Vos, N; Kremmidiotis, G; Lensink, I; Munk, A C; D'Arigo, K L; Anderson, J W; Lerner, T J; Moyzis, R K; Callen, D F; Breuning, M H; Doggett, N A; Gardiner, R M; Mole, S E

Mitchison, H M; Munroe, P B; O'Rawe, A M; Taschner, P E; de Vos, N; Kremmidiotis, G; Lensink, I; Munk, A C; D'Arigo, K L; Anderson, J W; Lerner, T J; Moyzis, R K; Callen, D F; Breuning, M H; Doggett, N A; Gardiner, R M; Mole, S E.

Afiliación

Mitchison HM; Department of Paediatrics, University College London Medical School, Rayne Institute, United Kingdom.

Genomics ; 40(2): 346-50, 1997 Mar 01.

Article en En | MEDLINE | ID: mdl-9119403

RESUMEN

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.

Asunto(s)

Genes/genética; Glicoproteínas de Membrana; Chaperonas Moleculares; Lipofuscinosis Ceroideas Neuronales/genética; Proteínas/genética; Secuencias Reguladoras de Ácidos Nucleicos/genética; Secuencia de Bases; Clonación Molecular; ADN Complementario/genética; Exones/genética; Expresión Génica; Humanos; Intrones/genética; Datos de Secuencia Molecular; Mapeo Restrictivo; Análisis de Secuencia de ADN; Homología de Secuencia de Ácido Nucleico

Buscar en Google

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glicoproteínas de Membrana / Proteínas / Secuencias Reguladoras de Ácidos Nucleicos / Chaperonas Moleculares / Genes / Lipofuscinosis Ceroideas Neuronales Límite: Humans Idioma: En Revista: Genomics Asunto de la revista: GENETICA Año: 1997 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos

Buscar en Google

Añadir a Mi BVS

Imprimir

XML

PubMed Links