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.
authors.affiliation: Molecular Medicine Unit, University of Leeds, UK. t.j.keen@leeds.ac.uk
authors.forename: T Jeffrey
authors.initials: TJ
authors.lastname: Keen
authors.forename: Matthew M
authors.initials: MM
authors.lastname: Hims
authors.forename: Arthur B
authors.initials: AB
authors.lastname: McKie
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
authors.forename: Rob M
authors.initials: RM
authors.lastname: Doran
authors.forename: David A
authors.initials: DA
authors.lastname: Mackey
authors.forename: David C
authors.initials: DC
authors.lastname: Mansfield
authors.forename: Robert F
authors.initials: RF
authors.lastname: Mueller
authors.forename: Shomi S
authors.initials: SS
authors.lastname: Bhattacharya
authors.forename: Alan C
authors.initials: AC
authors.lastname: Bird
authors.forename: Alexander F
authors.initials: AF
authors.lastname: Markham
authors.forename: Chris F
authors.initials: CF
authors.lastname: Inglehearn
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D005091:Exons; D005799:Genes, Dominant; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D018807:Polymorphism, Single-Stranded Conformational; D017346:Protein Serine-Threonine Kinases / Q000378:metabolism*; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D011518:Proto-Oncogene Proteins / Q000378:metabolism*; D051573:Proto-Oncogene Proteins c-pim-1; D000072260:RNA Splicing Factors; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D011506:Proteins; D011518:Proto-Oncogene Proteins; D000072260:RNA Splicing Factors; C465969:RP9 protein, human; C496634:PIM1 protein, human; D017346:Protein Serine-Threonine Kinases; D051573:Proto-Oncogene Proteins c-pim-1