NR4A2 and schizophrenia: Lack of association in a Portuguese/Brazilian study

Detalhes bibliográficos
Autor(a) principal: Ruano, Dina
Data de Publicação: 2004
Outros Autores: Macedo, António, Dourado, Ana, Soares, Maria João, Valente, José, Coelho, Isabel, Santos, Vítor, Azevedo, Maria Helena, Goodman, Ann, Hutz, Mara Helena, Gama, Clarissa, Lobato, Maria Inês, Belmonte-de-Abreu, Paulo, Palha, Joana Almeida
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10316/8451
https://doi.org/10.1002/ajmg.b.30031
Resumo: The present study investigates the association of mutations in the nuclear receptor NR4A2 in schizophrenic patients. The human Nur-related receptor 1, NR4A2, is an orphan nuclear receptor that can be constitutively active as a transcription factor and for which no natural ligand has yet been identified. Alone or with retinoid X receptor, RXR, NR4A2 influences the expression of several genes important for human brain development and regulation. In the absence of Nurr1 (the mouse homologue to human NR4A2), ventral mesencephalic dopaminergic mouse neurons evidence severe developmental failure, a condition that is lethal soon after birth. Nurr1 involvement in the dopaminergic system makes it a good candidate for study in neuropsychiatric disorders such as schizophrenia and Parkinson disease. Evidence by others support this hypothesis (1) mapping of the NR4A2 gene to chromosome 2q22-23, a region with suggestive linkage to schizophrenia and (2) identification of mutations in patients with schizophrenia (c.366-369delTAC, c.308A > G, c.-469delG), manic depression (c.289A > G), and familial Parkinson's disease (c.-291delT, c.-245T > G). To further extend these observations, we searched for all these mutations in 176 Caucasian Portuguese and 82 Caucasian Brazilian subjects with lifetime diagnosis of schizophrenia. The study failed to identify any of the described mutations in patients or controls. Nevertheless, these negative results do not exclude altered expression of nuclear receptors in schizophrenia or the presence of other mutations. © 2004 Wiley-Liss, Inc.
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spelling NR4A2 and schizophrenia: Lack of association in a Portuguese/Brazilian studyThe present study investigates the association of mutations in the nuclear receptor NR4A2 in schizophrenic patients. The human Nur-related receptor 1, NR4A2, is an orphan nuclear receptor that can be constitutively active as a transcription factor and for which no natural ligand has yet been identified. Alone or with retinoid X receptor, RXR, NR4A2 influences the expression of several genes important for human brain development and regulation. In the absence of Nurr1 (the mouse homologue to human NR4A2), ventral mesencephalic dopaminergic mouse neurons evidence severe developmental failure, a condition that is lethal soon after birth. Nurr1 involvement in the dopaminergic system makes it a good candidate for study in neuropsychiatric disorders such as schizophrenia and Parkinson disease. Evidence by others support this hypothesis (1) mapping of the NR4A2 gene to chromosome 2q22-23, a region with suggestive linkage to schizophrenia and (2) identification of mutations in patients with schizophrenia (c.366-369delTAC, c.308A > G, c.-469delG), manic depression (c.289A > G), and familial Parkinson's disease (c.-291delT, c.-245T > G). To further extend these observations, we searched for all these mutations in 176 Caucasian Portuguese and 82 Caucasian Brazilian subjects with lifetime diagnosis of schizophrenia. The study failed to identify any of the described mutations in patients or controls. Nevertheless, these negative results do not exclude altered expression of nuclear receptors in schizophrenia or the presence of other mutations. © 2004 Wiley-Liss, Inc.2004info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://hdl.handle.net/10316/8451http://hdl.handle.net/10316/8451https://doi.org/10.1002/ajmg.b.30031engAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 128B:1 (2004) 41-45Ruano, DinaMacedo, AntónioDourado, AnaSoares, Maria JoãoValente, JoséCoelho, IsabelSantos, VítorAzevedo, Maria HelenaGoodman, AnnHutz, Mara HelenaGama, ClarissaLobato, Maria InêsBelmonte-de-Abreu, PauloPalha, Joana Almeidainfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2021-10-21T11:25:42Zoai:estudogeral.uc.pt:10316/8451Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:43:30.329868Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv NR4A2 and schizophrenia: Lack of association in a Portuguese/Brazilian study
title NR4A2 and schizophrenia: Lack of association in a Portuguese/Brazilian study
spellingShingle NR4A2 and schizophrenia: Lack of association in a Portuguese/Brazilian study
Ruano, Dina
title_short NR4A2 and schizophrenia: Lack of association in a Portuguese/Brazilian study
title_full NR4A2 and schizophrenia: Lack of association in a Portuguese/Brazilian study
title_fullStr NR4A2 and schizophrenia: Lack of association in a Portuguese/Brazilian study
title_full_unstemmed NR4A2 and schizophrenia: Lack of association in a Portuguese/Brazilian study
title_sort NR4A2 and schizophrenia: Lack of association in a Portuguese/Brazilian study
author Ruano, Dina
author_facet Ruano, Dina
Macedo, António
Dourado, Ana
Soares, Maria João
Valente, José
Coelho, Isabel
Santos, Vítor
Azevedo, Maria Helena
Goodman, Ann
Hutz, Mara Helena
Gama, Clarissa
Lobato, Maria Inês
Belmonte-de-Abreu, Paulo
Palha, Joana Almeida
author_role author
author2 Macedo, António
Dourado, Ana
Soares, Maria João
Valente, José
Coelho, Isabel
Santos, Vítor
Azevedo, Maria Helena
Goodman, Ann
Hutz, Mara Helena
Gama, Clarissa
Lobato, Maria Inês
Belmonte-de-Abreu, Paulo
Palha, Joana Almeida
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Ruano, Dina
Macedo, António
Dourado, Ana
Soares, Maria João
Valente, José
Coelho, Isabel
Santos, Vítor
Azevedo, Maria Helena
Goodman, Ann
Hutz, Mara Helena
Gama, Clarissa
Lobato, Maria Inês
Belmonte-de-Abreu, Paulo
Palha, Joana Almeida
description The present study investigates the association of mutations in the nuclear receptor NR4A2 in schizophrenic patients. The human Nur-related receptor 1, NR4A2, is an orphan nuclear receptor that can be constitutively active as a transcription factor and for which no natural ligand has yet been identified. Alone or with retinoid X receptor, RXR, NR4A2 influences the expression of several genes important for human brain development and regulation. In the absence of Nurr1 (the mouse homologue to human NR4A2), ventral mesencephalic dopaminergic mouse neurons evidence severe developmental failure, a condition that is lethal soon after birth. Nurr1 involvement in the dopaminergic system makes it a good candidate for study in neuropsychiatric disorders such as schizophrenia and Parkinson disease. Evidence by others support this hypothesis (1) mapping of the NR4A2 gene to chromosome 2q22-23, a region with suggestive linkage to schizophrenia and (2) identification of mutations in patients with schizophrenia (c.366-369delTAC, c.308A > G, c.-469delG), manic depression (c.289A > G), and familial Parkinson's disease (c.-291delT, c.-245T > G). To further extend these observations, we searched for all these mutations in 176 Caucasian Portuguese and 82 Caucasian Brazilian subjects with lifetime diagnosis of schizophrenia. The study failed to identify any of the described mutations in patients or controls. Nevertheless, these negative results do not exclude altered expression of nuclear receptors in schizophrenia or the presence of other mutations. © 2004 Wiley-Liss, Inc.
publishDate 2004
dc.date.none.fl_str_mv 2004
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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10316/8451
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https://doi.org/10.1002/ajmg.b.30031
url http://hdl.handle.net/10316/8451
https://doi.org/10.1002/ajmg.b.30031
dc.language.iso.fl_str_mv eng
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dc.relation.none.fl_str_mv American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 128B:1 (2004) 41-45
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