A gene anatomy atlas ot the retina in health and disease
Project management at the University of Würzburg:
It is the goal of the present project to establish a comprehensive catalogue of retinal transcripts and to assess their contribution to human retinal disease, with particular emphasis on the genetically complex AMD. We argue that genes expressed specifically or abundantly in the human retina should play an important functional role in this tissue and therefore may causally be involved in retinal disease. We plan to utilize expressed sequence tags (EST) available from retina cDNA libraries, to identify the full-length transcripts and to determine their genomic structure. Our approach is based on the predicitive value of the in silico expression profile of established EST clusters that represent a single gene. EST clusters showing a high level of representation in retina cDNA libraries are chosen for further expression analysis by reverse transcriptase (RT)-PCR and Northern blot hybridization. Mutational analyses of candidate retinal genes will then be performed in single-gene retinopathies as well as in a large set of clinically well defined AMD patients and age-matched controls. This approach represents a first systematic attempt to characterize the molecular basis of the normal and diseased human retina. The results of this study are expected to provide a starting point for further research into the physiological processes of the normal retina but may also generate promising new targets for pharmacological research into novel drug developments.
age-related macular degeneration
from 01.2000 to 01.2003
Bund ,Granting date: 21.10.1999
- Stöhr H, Mah N, Schulz HL, Gehrig A, Fröhlich S, Weber BHF.
(2000). EST mining of the UniGene dataset to identify retina-specific genes. Cytogenet Cell Genet 91: 267-277, (scientific article)
- Stöhr H, Weber BHF.
(2001). Cloning and characterization of the retina-specific gene MPP4, a novel human member of the p55 subfamily of MAGUK proteins. Genomics 74 : 377-84, (scientific article)
- Mah N, Stöhr H, Schulz HL, White K, Weber BHF.
(2001). Identification of a novel retina-specific gene located in a subtelomeric region with polymorphic distribution among multiple human chromosomes. Biochimica Biophysica Acta 1522:167-174, (scientific article)
- Stöhr H, Berger C, Fröhlich S, Weber BHF.
(2002). A novel gene encoding a putative transmembrane protein with two extracellular CUB domains and a low-density lipoprotein class A module: Isolation of alternatively spliced isoforms in retina and brain. Gene 286: 223-231, (scientific article)
- Stöhr H, Marquardt A, Nanda I, Schmid M, Weber BHF.
(2002). Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. Eur J Hum Genet 10: 281-284, (scientific article)
- Schulz HL, Stöhr H, White K, van Driel MA, Hoyng CB, Frans Cremers, Weber BHF.
(2002). Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy. Molecular Vision 8: 67-71, (scientific article)
- Schulz HL, Stöhr H, Weber BHF.
(2002). Characterization of three novel isoforms of the metabotrobic glutamate receptor 7 (GRM7). Neurosci Lett 326: 37-40, (scientific article)
- Sauer CG, White K, Stöhr H, Grimm T, Hutchinson A, Bernstein PS, Lewis RA, Simonelli F, Pauleikhoff D, Allikmets R, Weber BHF.
(2001). Evaluation of the human G protein-coupled receptor 75 (GPR75) in age-related macular degeneration (AMD). Br J Ophthalmol 85: 969-975, (scientific article)