Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy.
Publication year
2002Source
Molecular Vision, 8, (2002), pp. 67-71ISSN
Publication type
Article / Letter to editor
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Organization
Human Genetics
Ophthalmology
Journal title
Molecular Vision
Volume
vol. 8
Page start
p. 67
Page end
p. 71
Subject
Hereditary and acquired vitreo-retinal disorders: experimental and clinical research and treatment.; Elucidation of hereditary disorders and their molecular diagnosis; Erfelijke en verworven vitreo-retinale aandoeningen: experimenteel en klinisch onderzoek en behandeling.; Opheldering van erfelijke ziekten en hun moleculaire diagnostiekAbstract
PURPOSE: Computer-assisted sampling of EST data contained within the UniGene human sequences collection is being used to establish a catalog of novel genes that are expressed exclusively or predominantly in the human retina. This provides a valuable source for candidate genes possibly involved in retinal degeneration. In this report we present the characterization of the C7orf9 gene locus encoding RFamide-related peptides (RFRPs) and its evaluation in dominant cystoid macular dystrophy (CYMD). METHODS: Bioinformatics and cDNA library screening were used to isolate the full-length cDNA sequence and to determine the genomic organization of C7orf9. Expression profiling was done by RT-PCR and Northern blot analysis. C7orf9 was evaluated as a candidate gene for CYMD by DNA sequencing and Southern blot analysis in two affected individuals from an extended Dutch CYMD family. RESULTS: The C7orf9 cDNA transcript consists of 1190 bp and is organized into 3 exons on the short arm of chromosome 7 within the critical region for CYMD. The transcript is specifically expressed in the retina but not in a large range of other human tissues. No disease-causing mutations or larger gene rearrangements were found. CONCLUSIONS: We provide the genomic organization of the RFamide-related peptide gene, C7orf9, which encodes a precursor protein for at least two small neuropeptides, referred to as NPSF (alias RFRP-1) and NPVF (alias RFRP-3) and show that it is abundantly expressed in the human retina. Results of our comprehensive mutation analysis suggests that C7orf9 is not the CYMD gene.
This item appears in the following Collection(s)
- Academic publications [238441]
- Electronic publications [122508]
- Faculty of Medical Sciences [90373]
- Open Access publications [97504]
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