title: Genetic and molecular exploration of UHMK1 in schizophrenic patients.
abstract: 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.
authors.affiliation: Psychiatrie Génétique, Hôpital Henri Mondor, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Dumaine
authors.forename: Alexandre
authors.initials: A
authors.lastname: Maucuer
authors.forename: Aurélie
authors.initials: A
authors.lastname: Barbet
authors.forename: Valérie
authors.initials: V
authors.lastname: Manceau
authors.forename: Jasmine
authors.initials: J
authors.lastname: Deshommes
authors.forename: Alexandre
authors.initials: A
authors.lastname: Méary
authors.forename: Andrei
authors.initials: A
authors.lastname: Szöke
authors.forename: Franck
authors.initials: F
authors.lastname: Schürhoff
authors.forename: Pierre-Michel
authors.initials: PM
authors.lastname: Llorca
authors.forename: Christophe
authors.initials: C
authors.lastname: Lancon
authors.forename: Marion
authors.initials: M
authors.lastname: Leboyer
authors.forename: Stéphane
authors.initials: S
authors.lastname: Jamain
mesh_terms: D005602:France; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D015201:Meta-Analysis as Topic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012559:Schizophrenia / Q000201:enzymology* / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D017346:Protein Serine-Threonine Kinases; C530658:UHMK1 protein, human