Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

摘要: Abstract By means of computational methods, we identified an uncharacterized human transcript, Chromosome 1 open reading frame 36 (C1orf36), that is expressed in the retina and maps to 1q32.3. The cDNA contains 585 bp encodes a 195-aminoacid protein with predicted mass 22.7 kDa. An alternatively spliced transcript retinoblastoma cell line, encoding for truncated peptide, was also identified. PCR experiments performed using from several sources indicate C1orf36 has preferential expression retina. Accordingly, situ hybridization experiments, as probe murine fragment, detected signal on mouse retinal adult sections. shares homology putative proteins Mus musculus Fugu rubripes, suggesting evolutionary conservation its function. Additional sequence analysis gene product predicts subcellular mitochondrial localization presence both conserved phosphorylation sites regions adopting coiled-coil conformation. We defined genomic structure gene. This enabled us perform mutational coding region about 300 patients affected by retinitis pigmentosa. No pathological mutations were this analysis.