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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

doi: 10.1097/YPG.0b013e3283458a37
Brief Reports

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.

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aINSERM U 955, IMRB, Psychiatrie Génétique, Hôpital Henri Mondor

bUMR-S 955, Faculté de Médecine, Université Paris-Est

cDépartement de Psychiatrie, Groupe Hospitalier Albert Chenevier-Henri Mondor

dINSERM, Plate-forme de Ressources Biologiques, Centre d'Investigation Clinique 006, AP-HP, Groupe Hospitalier Albert Chenevier-Henri Mondor

eFondation FondaMental, Réseau Thématique de Recherche et de Soins en Santé Mentale, Créteil


gUniversité Pierre et Marie Curie

hInstitut du Fer à Moulin, Paris

iService de Psychiatrie Adulte, Hôpital Gabriel Montpied, Clermont-Ferrand

jService de Psychiatrie Adulte, Hôpital Sainte Marguerite, Marseille, France

Correspondence to Stéphane Jamain, PhD, INSERM U 955, Psychiatrie Génétique, Hôpital Henri Mondor, 51 Avenue du Maréchal de Lattre de Tassigny, Creteil, F-94000, France Tel: +33 1 4981 3775; fax: +33 1 4981 3588; e-mail:

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Received February 24, 2010

Accepted February 7, 2011

© 2011 Lippincott Williams & Wilkins, Inc.