Genetic and physiological data implicating the new human gene G72 and the gene for d -amino acid oxidase in schizophrenia

• DOI: 10.1073/pnas.182412499
• Publication Date: 2002-10-15T16:43:03Z
• Authors: Ilya Chumakov; Marta Blumenfeld; Oxana Guerassimenko; Laurent Cavarec; Marta Palicio; Hadi Abderrahim; Lydie Bougueleret; Caroline Barry; Hiroaki Tanaka; Philippe La Rosa; Anne Puech; Nadia Tahri; Annick Cohen-Akenine; Sylvain Delabrosse; Sébastien Lissarr...; Françoise-Pascali...; Karelle Maurice; Laurent Essioux; Philippe Millasseau; Pascale Grel; Virginie Debailleul; Anne-Marie Simon; Dominique Caterina; Isabelle Dufaure; Kattayoun Malekzadeh; Maria Belova; Jian-Jian Luan; Michel Bouillot; Jean-Luc Sambucy; Gwenael Primas; Martial Saumier; Nadia Boubkiri; Sandrine Martin-S...; Myriam Nasroune; Hélène Peixoto; Arnaud Delaye; Virginie Pinchot; Mariam Bastucci; Sophie Guillou; Magali Chevillon; Ricardo Sainz-Fue...; Said Meguenni; Joan Aurich-Costa; Dorra Cherif; Anne Gimalac; Cornelia Van Duijn; Denis Gauvreau; Gail Ouelette; Isabel Fortier; John Realson; Tatiana Sherbatich; Nadejda Riazanskaia; Evgeny Rogaev; Peter Raeymaekers; Jeroen Aerssens; Frank Konings; Walter Luyten; Fabio Macciardi; Pak C. Sham; Richard E. Straub; Daniel R. Weinberger; Nadine Cohen; Daniel Cohen
• Keywords: D-amino acid oxidase

A map of 191 single-nucleotide polymorphism (SNPs) was built across a 5-Mb segment from chromosome 13q34 that has been genetically linked to schizophrenia. DNA 213 schizophrenic patients and 241 normal individuals Canada were genotyped with this marker set. Two 1,400- 65-kb regions contained markers associated the disease. region also found be schizophrenia in Russian sample. overlapping genes G72 G30 transcribed brain experimentally annotated region. Transfection experiments point existence 153-aa protein coded by gene. This is rapidly evolving primates, localized endoplasmic reticulum/Golgi transfected cells, able form multimers specifically binds carbohydrates. Yeast two-hybrid identified enzyme d-amino acid oxidase (DAAO) as an interacting partner. DAAO expressed human where it oxidizes d-serine, potent activator N-methyl-D-aspartate type glutamate receptor. The interaction between confirmed vitro resulted activation DAAO. Four SNP Canadian samples. Logistic regression revealed genetic SNPs vicinity two genes. association both new gene together activity product points involvement N-methyl-d-aspartate receptor regulation pathway