title: Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.
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 that maps to 1q32.3. The cDNA contains an open reading frame of 585bp that encodes a 195-aminoacid protein with a predicted mass of 22.7kDa. An alternatively spliced transcript in a retinoblastoma cell line, encoding for a truncated peptide, was also identified. PCR experiments performed using human cDNA from several sources indicate that C1orf36 has a preferential expression in the retina. Accordingly, in situ hybridization experiments, performed using as probe a murine C1orf36 cDNA fragment, detected a hybridization signal on mouse retinal adult sections. The C1orf36 protein shares homology with putative proteins in Mus musculus and Fugu rubripes, suggesting evolutionary conservation of its function. Additional sequence analysis of the C1orf36 gene product predicts its subcellular mitochondrial localization and the presence of both evolutionary conserved phosphorylation sites and regions adopting a coiled-coil conformation. We also defined the genomic structure of the gene. This enabled us to perform a mutational analysis of the C1orf36 coding region of about 300 patients affected by retinitis pigmentosa. No pathological mutations were detected in this analysis.
authors.affiliation: Scientific Institute Hospital San Raffaele (DIBIT), Milan, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Lavorgna
authors.forename: Marta
authors.initials: M
authors.lastname: Lestingi
authors.forename: Carmela
authors.initials: C
authors.lastname: Ziviello
authors.forename: Francesco
authors.initials: F
authors.lastname: Testa
authors.forename: Francesca
authors.initials: F
authors.lastname: Simonelli
authors.forename: Maria Pia
authors.initials: MP
authors.lastname: Manitto
authors.forename: Rosario
authors.initials: R
authors.lastname: Brancato
authors.forename: Maurizio
authors.initials: M
authors.lastname: Ferrari
authors.forename: Ernesto
authors.initials: E
authors.lastname: Rinaldi
authors.forename: Alfredo
authors.initials: A
authors.lastname: Ciccodicola
authors.forename: Sandro
authors.initials: S
authors.lastname: Banfi
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D017124:Conserved Sequence; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000302:isolation & purification; D005136:Eye Proteins / Q000096:biosynthesis / Q000235:genetics*; D040461:Gene Components; D006801:Humans; D008969:Molecular Sequence Data; D020419:Photoreceptor Cells, Vertebrate / Q000378:metabolism*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D016415:Sequence Alignment; D020539:Sequence Analysis, Protein; D014018:Tissue Distribution; D014158:Transcription, Genetic
chemical_list: D018076:DNA, Complementary; D005136:Eye Proteins; C477438:RD3 protein, human