Psychiatric Genetics

Skip Navigation LinksHome > December 2011 - Volume 21 - Issue 6 > Genetic and molecular exploration of UHMK1 in schizophrenic...
Psychiatric Genetics:
doi: 10.1097/YPG.0b013e3283458a37
Brief Reports

Genetic and molecular exploration of UHMK1 in schizophrenic patients

Dumaine, Annea,e; Maucuer, Alexandref,g,h; Barbet, Aurélief,g,h; Manceau, Valérief,g,h; Deshommes, Jasminea,d,e; Méary, Alexandrea,c,e; Szöke, Andreia,c,e; Schürhoff, Francka,b,c,e; Llorca, Pierre-Michele,i; Lancon, Christophee,j; Leboyer, Mariona,b,c,e; Jamain, Stéphanea,e

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In two recent papers, polymorphisms located in U2AF homology motif kinase 1 (UHMK1) gene have been associated to schizophrenia. This gene encodes the serine/threonine kinase, kinase interacting with Stathmin, and has been functionally related to RNA metabolism and neurite outgrowth. In this study, we explored the contribution of this gene in schizophrenia susceptibility, using a case–control association study, a mutation screening, a transcription level analysis, and by the investigation of the phosphorylation status of the splicing factor, SF1, in B-lymphoblastoid cell lines of patients and controls. No association was observed in our French cohort, and no amino acid substitution was predicted in the subsample studied for mutation screening. No difference was observed in expression level or in SF1 phosphorylation between patients and controls. Despite a slight difference persisting in the meta-analysis carried out using four European populations, these data suggest, altogether, that UHMK1 does not play a major role in susceptibility to schizophrenia.

© 2011 Lippincott Williams & Wilkins, Inc.


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