This volume is dedicated to Ulrich Wolf on the occasion of his retirement by his friends and associates
Editors: Michael Schmid, Würzburg; Harold P. Klinger, New York, N.Y.

Paper

EST mining of the UniGene dataset to identify retina-specific genes
H. Stöhr, N. Mah, H.L. Schulz, A. Gehrig, S. Fröhlich, B.H.F. Weber

Institut für Humangenetik, Biozentrum, Universität Würzburg, Würzburg (Germany)

Address of Corresponding Author

Cytogenet Cell Genet 2000;91:267-277 (DOI: 10.1159/000056856)

  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.   

Copyright © 2001 S. Karger AG, Basel

  Author Contacts

Request reprints from Bernhard H.F. Weber, Ph.D., Institut für Humangenetik,Biozentrum, Am Hubland, D-97074 Würzburg (Germany);telephone: (49) 931-888-4062; fax: (49) 931-888-4069;e-mail: bweb@biozentrum.uni-wuerzburg.de

  Article Information

Supported by a grant from the Bundesministerium für Bildung und Forschung (BMBF) under grant number 01KW9921/0.

Received: Received 18 August 2000;
manuscript accepted 12 September 2000.
Number of Print Pages : 11
Number of Figures : 3, Number of Tables : 5, Number of References : 41