High impact information on NPVF

• 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) [1].
• METHODS: Bioinformatics and cDNA library screening were used to isolate the full-length cDNA sequence and to determine the genomic organization of C7orf9 [1].

Biological context of NPVF

• 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 [1].

Other interactions of NPVF

• Results of our comprehensive mutation analysis suggests that C7orf9 is not the CYMD gene [1].

Analytical, diagnostic and therapeutic context of NPVF

• 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 [1].
• We first cloned a cDNA encoding a putative GnIH receptor by a combination of 3' and 5' rapid amplification of cDNA ends (RACE) using PCR primers designed from the sequence for the receptor for rat RF-amide-related peptide (RFRP), an orthologous peptide of GnIH [2].

References