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

T. Jeffrey Keen; Matthew M. Hims; Arthur B. McKie; Anthony T. Moore; Rob M. Doran; David A. Mackey; David C. Mansfield; Robert F. Mueller; Shomi S. Bhattacharya; Alan C. Bird; Alexander F. Markham; Chris F. Inglehearn

doi:10.1038/sj/ejhg/5200797

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

T. Jeffrey Keen, Matthew M. Hims, Arthur B. McKie, Anthony T. Moore, Rob M. Doran, David A. Mackey, David C. Mansfield, Robert F. Mueller, Shomi S. Bhattacharya, Alan C. Bird, Alexander F. Markham, Chris F. Inglehearn

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68 Citations (Scopus)

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.

Original language	English
Pages (from-to)	245-249
Number of pages	5
Journal	European Journal of Human Genetics
Volume	10
Issue number	4
DOIs	https://doi.org/10.1038/sj/ejhg/5200797
Publication status	Published - 2 Jul 2002
Externally published	Yes

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Keen, T. J., Hims, M. M., McKie, A. B., Moore, A. T., Doran, R. M., Mackey, D. A., Mansfield, D. C., Mueller, R. F., Bhattacharya, S. S., Bird, A. C., Markham, A. F., & Inglehearn, C. F. (2002). 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), 245-249. https://doi.org/10.1038/sj/ejhg/5200797

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. / Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. In: European Journal of Human Genetics. 2002 ; Vol. 10, No. 4. pp. 245-249.

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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",

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.",

keywords = "Pigmentosa, Pim-1, Retinitis, RP9",

author = "Keen, {T. Jeffrey} and Hims, {Matthew M.} and McKie, {Arthur B.} and Moore, {Anthony T.} and Doran, {Rob M.} and Mackey, {David A.} and Mansfield, {David C.} and Mueller, {Robert F.} and Bhattacharya, {Shomi S.} and Bird, {Alan C.} and Markham, {Alexander F.} and Inglehearn, {Chris F.}",

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Keen, TJ, Hims, MM, McKie, AB, Moore, AT, Doran, RM, Mackey, DA, Mansfield, DC, Mueller, RF, Bhattacharya, SS, Bird, AC, Markham, AF & Inglehearn, CF 2002, '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, vol. 10, no. 4, pp. 245-249. https://doi.org/10.1038/sj/ejhg/5200797

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

In: European Journal of Human Genetics, Vol. 10, No. 4, 02.07.2002, p. 245-249.

Research output: Contribution to journal › Article

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AU - Hims, Matthew M.

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AU - Bhattacharya, Shomi S.

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AU - Inglehearn, Chris F.

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AB - 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.

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