NR4A2 and schizophrenia: Lack of association in a Portuguese/Brazilian study
Identifieur interne : 001603 ( Main/Exploration ); précédent : 001602; suivant : 001604NR4A2 and schizophrenia: Lack of association in a Portuguese/Brazilian study
Auteurs : Dina Ruano [Portugal] ; Ant Nio Macedo [Portugal] ; Ana Dourado [Portugal] ; Maria João Soares [Portugal] ; José Valente [Portugal] ; Isabel Coelho [Portugal] ; Vítor Santos [Portugal] ; Maria Helena Azevedo [Portugal] ; Ann Goodman [États-Unis] ; Mara Helena Hutz [Brésil] ; Clarissa Gama [Brésil] ; Maria Inês Lobato [Brésil] ; Paulo Belmonte-De-Abreu [Brésil] ; Joana Almeida Palha [Portugal]Source :
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics [ 1552-4841 ] ; 2004-07-01.
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Abstract
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.
Url:
DOI: 10.1002/ajmg.b.30031
Affiliations:
- Brésil, Portugal, États-Unis
- Massachusetts, Rio Grande do Sul, Région Nord (Portugal)
- Boston, Braga, Porto Alegre
- Université du Minho
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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.</div></front></TEI><affiliations><list><country><li>Brésil</li><li>Portugal</li><li>États-Unis</li></country><region><li>Massachusetts</li><li>Rio Grande do Sul</li><li>Région Nord (Portugal)</li></region><settlement><li>Boston</li><li>Braga</li><li>Porto Alegre</li></settlement><orgName><li>Université du Minho</li></orgName></list><tree><country name="Portugal"><region name="Région Nord (Portugal)"><name sortKey="Ruano, Dina" sort="Ruano, Dina" uniqKey="Ruano D" first="Dina" last="Ruano">Dina Ruano</name></region><name sortKey="Azevedo, Maria Helena" sort="Azevedo, Maria Helena" uniqKey="Azevedo M" first="Maria Helena" last="Azevedo">Maria Helena Azevedo</name><name sortKey="Coelho, Isabel" sort="Coelho, Isabel" uniqKey="Coelho I" first="Isabel" last="Coelho">Isabel Coelho</name><name sortKey="Dourado, Ana" sort="Dourado, Ana" uniqKey="Dourado A" first="Ana" last="Dourado">Ana Dourado</name><name sortKey="Macedo, Ant Nio" sort="Macedo, Ant Nio" uniqKey="Macedo A" first="Ant Nio" last="Macedo">Ant Nio Macedo</name><name sortKey="Palha, Joana Almeida" sort="Palha, Joana Almeida" uniqKey="Palha J" first="Joana Almeida" last="Palha">Joana Almeida Palha</name><name sortKey="Palha, Joana Almeida" sort="Palha, Joana Almeida" uniqKey="Palha J" first="Joana Almeida" last="Palha">Joana Almeida Palha</name><name sortKey="Ruano, Dina" sort="Ruano, Dina" uniqKey="Ruano D" first="Dina" last="Ruano">Dina Ruano</name><name sortKey="Santos, Vitor" sort="Santos, Vitor" uniqKey="Santos V" first="Vítor" last="Santos">Vítor Santos</name><name sortKey="Soares, Maria Joao" sort="Soares, Maria Joao" uniqKey="Soares M" first="Maria João" last="Soares">Maria João Soares</name><name sortKey="Valente, Jose" sort="Valente, Jose" uniqKey="Valente J" first="José" last="Valente">José Valente</name></country><country name="États-Unis"><region name="Massachusetts"><name sortKey="Goodman, Ann" sort="Goodman, Ann" uniqKey="Goodman A" first="Ann" last="Goodman">Ann Goodman</name></region></country><country name="Brésil"><region name="Rio Grande do Sul"><name sortKey="Hutz, Mara Helena" sort="Hutz, Mara Helena" uniqKey="Hutz M" first="Mara Helena" last="Hutz">Mara Helena Hutz</name></region><name sortKey="Belmonte E Breu, Paulo" sort="Belmonte E Breu, Paulo" uniqKey="Belmonte E Breu P" first="Paulo" last="Belmonte-De-Abreu">Paulo Belmonte-De-Abreu</name><name sortKey="Gama, Clarissa" sort="Gama, Clarissa" uniqKey="Gama C" first="Clarissa" last="Gama">Clarissa Gama</name><name sortKey="Lobato, Maria Ines" sort="Lobato, Maria Ines" uniqKey="Lobato M" first="Maria Inês" last="Lobato">Maria Inês Lobato</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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