101. Rational Design and Cloning of a Stable RPGR ORF15 cDNA Encoding the Full-Length Native RPGR Protein
نویسندگان
چکیده
منابع مشابه
Cloning of a full length cDNA encoding canine Interleukin-4.
Primer designed on the basis of the conserved transcription start point (tsp) region of human and bovine gene transcripts, encoding the Interleukin-4 (IL-4), and subsequently the gene specific primer and an adaptor primer pair, was successfully used, to generate the full-length complementary DNA (cDNA) sequence coding for canine IL-4 (cIL-4), from pokeweed mitogen stimulated canine peripheral b...
متن کاملSevere retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene
PURPOSE To describe the genotype-phenotype correlation and serial observations in a five-generation Czech family with X-linked retinitis pigmentosa (XLRP) associated with severe visual impairment in women. METHODS Comprehensive ophthalmological examination including spectral domain optical coherence tomography (SD-OCT) was performed. Based on the pedigree structure and women being severely af...
متن کاملThe retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis.
Retinitis pigmentosa is a photoreceptor degenerative disease leading to blindness in adulthood. Leber congenital amaurosis (LCA) describes a more severe condition with visual deficit in early childhood. Defects in the retinitis pigmentosa GTPase regulator (RPGR) and an RPGR-interacting protein (RPGRIP) are known causes of retinitis pigmentosa and LCA, respectively. Both proteins localize in the...
متن کاملRPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.
The ORF15 isoform of RPGR (RPGR(ORF15)) and RPGR interacting protein 1 (RPGRIP1) are mutated in a variety of retinal dystrophies but their functions are poorly understood. Here, we show that in cultured mammalian cells both RPGR(ORF15) and RPGRIP1 localize to centrioles. These localizations are resistant to the microtubule destabilizing drug nocodazole and persist throughout the cell cycle. RPG...
متن کاملIdentification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.
OBJECTIVE To investigate the phenotypic and genotypic characteristics of a novel mutation associated with X-linked retinitis pigmentosa (XLRP). METHODS Six individuals in a family with XLRP were recruited, and clinical examinations were performed. All of the members were genotyped with microsatellite markers at loci that were considered to be associated with XLRP. The retinitis pigmentosa GTP...
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ژورنال
عنوان ژورنال: Molecular Therapy
سال: 2016
ISSN: 1525-0016
DOI: 10.1016/s1525-0016(16)32910-0