title: Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations.
abstract: Retinitis pigmentosa (RP) is the most common form of inherited retinopathy, with an approximate incidence of 1 in 3700 individuals worldwide. Mutations in the retinitis pigmentosa 1 (RP1) gene are responsible for about 5-10% cases of autosomal dominant RP. The RP1 gene is specifically expressed in the photoreceptor layers of the postnatal retina and encodes a predicted protein characterised by the presence of two doublecortin (DC) domains, known to be implicated in microtubule binding. We identified and characterised, both in human and in mouse, a novel mammalian gene, termed Retinitis Pigmentosa1-like1 (RP1L1), because of its significant sequence similarity to the RP1 gene product. The sequence homology between RP1 and RP1L1 was found to be mostly restricted to the DC domains and to the N-terminal region, including the first 350 amino acids. The RP1L1 gene was also found to be conserved in distant vertebrates, since we identified a homologue in Fugu rubripes (pufferfish). Similar to RP1, RP1L1 expression is restricted to the postnatal retina, as determined by semiquantitative reverse transcriptase-PCR and Northern analysis. The retina-specific expression and the sequence similarity to RP1 render RP1L1 a potential candidate for inherited retinal disorders.
authors.affiliation: Telethon Institute of Genetics and Medicine, Via Pietro Castellino 111, 80131 Naples, Italy.
authors.forename: Ivan
authors.initials: I
authors.lastname: Conte
authors.forename: Marta
authors.initials: M
authors.lastname: Lestingi
authors.forename: Anneke
authors.initials: A
authors.lastname: den Hollander
authors.forename: Giovanna
authors.initials: G
authors.lastname: Alfano
authors.forename: Carmela
authors.initials: C
authors.lastname: Ziviello
authors.forename: Mariarosaria
authors.initials: M
authors.lastname: Pugliese
authors.forename: Diego
authors.initials: D
authors.lastname: Circolo
authors.forename: Cristina
authors.initials: C
authors.lastname: Caccioppoli
authors.forename: Alfredo
authors.initials: A
authors.lastname: Ciccodicola
authors.forename: Sandro
authors.initials: S
authors.lastname: Banfi
mesh_terms: D020816:Amino Acid Motifs; D000595:Amino Acid Sequence; D000818:Animals; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D020869:Gene Expression Profiling; D051379:Mice; D008969:Molecular Sequence Data; D009928:Organ Specificity; D012160:Retina / Q000378:metabolism*; D012162:Retinal Degeneration / Q000235:genetics* / Q000378:metabolism; D020539:Sequence Analysis, Protein; D023741:Takifugu / Q000235:genetics
chemical_list: D005136:Eye Proteins; C474032:RP1L1 protein, human