title: Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy.
abstract: OBJECTIVE
  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.
authors.affiliation: Institut für Humangenetik, Universität Würzburg, D-97074 Würzburg, Germany.
authors.forename: Heidi L
authors.initials: HL
authors.lastname: Schulz
authors.forename: Heidi
authors.initials: H
authors.lastname: Stoehr
authors.forename: Karen
authors.initials: K
authors.lastname: White
authors.forename: Marc A
authors.initials: MA
authors.lastname: van Driel
authors.forename: Carel B
authors.initials: CB
authors.lastname: Hoyng
authors.forename: Frans
authors.initials: F
authors.lastname: Cremers
authors.forename: Bernhard H F
authors.initials: BH
authors.lastname: Weber
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D015139:Blotting, Southern; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D015870:Gene Expression; D020869:Gene Expression Profiling; D015723:Gene Library; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008269:Macular Edema / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009479:Neuropeptides / Q000235:genetics* / Q000378:metabolism; D012160:Retina / Q000378:metabolism*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D005136:Eye Proteins; C452899:NPVF protein, human; D009479:Neuropeptides; C416987:RFamide peptide