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Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

Citation

Keen, TJ and Hims, MM and McKie, AB and Moore, AT and Doran, RM and Mackey, DA and Mansfield, DC and Mueller, RF and Bhattacharya, SS and Bird, AC and Markham, AF and Inglehearn, CF, Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa, European journal of human genetics, 10, (4) pp. 245-9. ISSN 1018-4813 (2002) [Refereed Article]

DOI: doi:10.1038/sj.ejhg.5200797

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.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Mackey, DA (Professor David Mackey)
Author:Bird, AC (Mrs Alicia Bird)
ID Code:49057
Year Published:2002
Web of Science® Times Cited:61
Deposited By:Menzies Institute for Medical Research
Deposited On:2007-08-01
Last Modified:2011-10-04
Downloads:0

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