Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.
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.
Keen
T Jeffrey
TJ
Molecular Medicine Unit, University of Leeds, UK. t.j.keen@leeds.ac.uk
Hims
Matthew M
MM
McKie
Arthur B
AB
Moore
Anthony T
AT
Doran
Rob M
RM
Mackey
David A
DA
Mansfield
David C
DC
Mueller
Robert F
RF
Bhattacharya
Shomi S
SS
Bird
Alan C
AC
Markham
Alexander F
AF
Inglehearn
Chris F
CF
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
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