title: EST mining of the UniGene dataset to identify retina-specific genes.
abstract: Age-related macular degeneration (AMD) is a multifactorial disorder affecting the visual system with a high prevalence among the elderly population but with no effective therapy available at present. To better understand the pathogenesis of this disorder, the identification of the genetic factors and the determination of their contribution to AMD is needed. Towards this goal, we are pursuing a strategy that makes use of the EST data processed in the UniGene database and aims at the generation of a comprehensive catalogue of genes preferentially active in the human retina. Subsequently, these genes will be systematically assessed in AMD. We performed a retina EST sampling and obtained a total of 673 clusters containing only retina ESTs as well as 568 clusters with at least 30% of the ESTs in each cluster originating from retina cDNA libraries. Of these, 180 representative EST clusters with varying retina and non-retina EST contents were analyzed for their in vitro expression. This approach identified 39 transcripts with retina-specific expression. One of these genes (C18orf2) mapping to chromosome 18 was further characterized. Multiple C18orf2 transcripts display a complex pattern of differential splicing in the human retina. The various isoforms encode hypothetical polypeptides with no homologies to known proteins or protein motifs.
authors.affiliation: Institut für Humangenetik, Biozentrum, Universität Würzburg, Würzburg , Germany.
authors.forename: H
authors.initials: H
authors.lastname: Stöhr
authors.forename: N
authors.initials: N
authors.lastname: Mah
authors.forename: H L
authors.initials: HL
authors.lastname: Schulz
authors.forename: A
authors.initials: A
authors.lastname: Gehrig
authors.forename: S
authors.initials: S
authors.lastname: Fröhlich
authors.forename: B H
authors.initials: BH
authors.lastname: Weber
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D000595:Amino Acid Sequence; D003001:Cloning, Molecular; D019992:Databases as Topic; D005091:Exons / Q000235:genetics; D020224:Expressed Sequence Tags; D020869:Gene Expression Profiling; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D005810:Multigene Family / Q000235:genetics; D016366:Open Reading Frames / Q000235:genetics; D009928:Organ Specificity; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D012160:Retina / Q000378:metabolism*; D012164:Retinal Diseases / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016415:Sequence Alignment; D016324:Sequence Tagged Sites
chemical_list: D020033:Protein Isoforms; D012333:RNA, Messenger