Positional cloning of the gene for X-linked retinitis pigmentosa 2
| Autor: | G.C.F. van Duijnhoven, Uwe Schwahn, J Dong, Myriam Hemberger, André Rosenthal, B. Hinzmann, Hans-Hilger Ropers, Frans P.M. Cremers, Arthur A.B. Bergen, Renate Kirschner, Thomas Rosenberg, Reinald Fundele, Wolfgang Berger, Steffen Lenzner, Alfred J. L. G. Pinckers, Silke Feil |
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| Přispěvatelé: | Other departments |
| Rok vydání: | 1998 |
| Předmět: |
Male
X Chromosome Positionele klonering van genen betrokken bij X gebonden retinitis pigmentosa en nachtblindheid Retroelements Positional cloning Genetic Linkage DNA Mutational Analysis Molecular Sequence Data Locus (genetics) Retinal disorders Biology Netvliesaandoeningen Frameshift mutation Gene product Chromosome Walking Mice Fetus Gene mapping Retinitis pigmentosa Positional cloning of genes underlying X linked retinitis pigmentosa and night blindness Genetics medicine Animals Humans Amino Acid Sequence RNA Messenger Cloning Molecular Gene Sequence Homology Amino Acid Sequence Analysis DNA Retinitis pigmentosa GTPase regulator medicine.disease Molecular biology Introns Genes Organ Specificity Mutation Retinitis Pigmentosa |
| Zdroj: | Nature genetics, 19(4), 327-332. Nature Publishing Group Nature Genetics, 19, 327-332 Nature Genetics, 19, pp. 327-332 |
| ISSN: | 1546-1718 1061-4036 |
| DOI: | 10.1038/1214 |
| Popis: | X-linked retinitis pigmentosa (XLRP) results from mutations in at least two different loci, designated RP2 and RP3, located at Xp11.3 and Xp21.1, respectively. The RP3 gene was recently isolated by positional cloning, whereas the RP2 locus was mapped genetically to a 5-cM interval. We have screened this region for genomic rearrangements by the YAC representation hybridization (YRH) technique and detected a LINE1 (L1) insertion in one XLRP patient. The L1 retrotransposition occurred in an intron of a novel gene that consisted of five exons and encoded a polypeptide of 350 amino acids. Subsequently, nonsense, missense and frameshift mutations, as well as two small deletions, were identified in six additional patients. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Our data provide evidence that mutations in this gene, designated RP2, are responsible for progressive retinal degeneration. |
| Databáze: | OpenAIRE |
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