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/1822/1761
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.
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spelling NR4A2 and schizophrenia: lack of association in a portuguese/brazilian studyNurr1Nuclear orphan receptorDopamineRetinoidsScience & TechnologyThe 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.Fundação para a Ciência e a Tecnologia (FCT) – Programa Operacional “Ciência, Tecnologia, Inovação” (POCTI) - POCTI/MGI/35837-FEDER.Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq, BRASIL).Gabinete de Relações Internacionais da Ciência e do Ensino Superior (Portugal) e Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (Brasil) – Programa GRICES/CAPES.John Wiley and SonsUniversidade do MinhoRuano, DinaMacedo, AntónioDourado, AnaSoares, Maria JoãoValente, JoséCoelho, IsabelSantos, VítorAzevedo, Maria HelenaGoodman, AnnHutz, Mara HelenaGama, ClarissaLobato, Maria InêsBelmonte-de-Abreu, PauloPalha, Joana Almeida20042004-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/1761eng"American journal of medical genetics. Part B (Neuropsychiatric genetics)". ISSN 1552-4841. 128B (2004) 41–45.1552-485X10.1002/ajmg.b.3003115211629info: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:RCAAP2024-05-11T05:20:38Zoai:repositorium.sdum.uminho.pt:1822/1761Portal AgregadorONGhttps://www.rcaap.pt/oai/openairemluisa.alvim@gmail.comopendoar:71602024-05-11T05:20:38Repositório 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
Nurr1
Nuclear orphan receptor
Dopamine
Retinoids
Science & Technology
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.none.fl_str_mv Universidade do Minho
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
dc.subject.por.fl_str_mv Nurr1
Nuclear orphan receptor
Dopamine
Retinoids
Science & Technology
topic Nurr1
Nuclear orphan receptor
Dopamine
Retinoids
Science & Technology
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.
publishDate 2004
dc.date.none.fl_str_mv 2004
2004-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/1822/1761
url http://hdl.handle.net/1822/1761
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv "American journal of medical genetics. Part B (Neuropsychiatric genetics)". ISSN 1552-4841. 128B (2004) 41–45.
1552-485X
10.1002/ajmg.b.30031
15211629
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv John Wiley and Sons
publisher.none.fl_str_mv John Wiley and Sons
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv mluisa.alvim@gmail.com
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