title: Transcript identification on the CLN5 region on chromosome 13q22.
abstract: Our efforts to clone the CLN5 gene, mutated in a severe children's brain disease, variant late infantile neuronal ceroid lipofuscinosis (vLINCL, MIM256731), resulted in large-scale sequencing of genomic clones flanking the critical chromosomal region on 13q22. Computational and traditional transcript identification analyses of the resulting sequence were used to identify the disease gene. In addition to the identification of the CLN5 gene, this effort produced a large amount of genomic sequence data. Here, we report a transcription map of the 107 kb sequence in the CLN5 region, based on traditional and computational gene identification strategies. Several transcripts were identified in this sequence. Queries against the database of expressed sequence tags proved to be the most powerful tool for gene identification from large-scale sequence.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Finland.
authors.forename: T
authors.initials: T
authors.lastname: Klockars
authors.forename: V
authors.initials: V
authors.lastname: Holmberg
authors.forename: M
authors.initials: M
authors.lastname: Savukoski
authors.forename: E S
authors.initials: ES
authors.lastname: Lander
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000251:Adenosine Triphosphatases / Q000235:genetics; D015152:Blotting, Northern; D002352:Carrier Proteins / Q000235:genetics; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D053487:DEAD-box RNA Helicases; D004265:DNA Helicases; D018076:DNA, Complementary / Q000032:analysis; D016208:Databases, Factual; D005091:Exons; D020224:Expressed Sequence Tags; D015723:Gene Library; D006801:Humans; D051907:Lysosomal Membrane Proteins; D008565:Membrane Proteins / Q000235:genetics*; D006899:Mixed Function Oxygenases; D008957:Models, Genetic; D009363:Neoplasm Proteins / Q000235:genetics; D011544:Pseudogenes; D020365:RNA Helicases / Q000235:genetics; D012269:Ribosomal Proteins / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods; D014018:Tissue Distribution; D014158:Transcription, Genetic; D044767:Ubiquitin-Protein Ligases
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C113332:CLN5 protein, human; D002352:Carrier Proteins; D018076:DNA, Complementary; D051907:Lysosomal Membrane Proteins; D008565:Membrane Proteins; D009363:Neoplasm Proteins; C053634:RPL7 protein, human; D012269:Ribosomal Proteins; D006899:Mixed Function Oxygenases; C114022:MYCBP2 protein, human; D044767:Ubiquitin-Protein Ligases; D000251:Adenosine Triphosphatases; C098487:DHX9 protein, human; D004265:DNA Helicases; D053487:DEAD-box RNA Helicases; D020365:RNA Helicases