NR4A2 and schizophrenia: lack of association in a portuguese/brazilian study
Autor(a) principal: | |
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Data de Publicação: | 2004 |
Outros Autores: | , , , , , , , , , , , , |
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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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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1817544590687731712 |