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- Title
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.
- Authors
Keen, T. Jeffrey; Hims, Matthew M.; McKie, Arthur B.; Moore, Anthony T.; Doran, Rob M.; Mackey, David A.; Mansfield, David C.; Mueller, Robert F.; Bhattacharya, Shomi S.; Bird, Alan C.; Markham, Alexander F.; Inglehearn, Chris F.
- Abstract
The RP9 form of autosomal dominant retinitis pigmentosa (adRP) maps to a locus on human chromosome 7p14. We now report two different disease associated mutations in a previously unidentified human gene, the mouse orthologue of which has been characterised by its interaction with the Pim-1 oncogene. In the original linked family we identified the missense mutation H137L. A second missense mutation, D170G, was found in a single RP patient. The putative RP9 gene appears to be expressed in a wide range of tissues, but its function is unknown and a pathogenic mechanism remains to be determined.
- Subjects
RETINITIS pigmentosa; GENETIC mutation; HUMAN chromosomes
- Publication
European Journal of Human Genetics, 2002, Vol 10, Issue 4, p245
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/sj.ejhg.5200797