Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2000 Dec 4;96(6):808-13.
doi: 10.1002/1096-8628(20001204)96:6<808::aid-ajmg23>3.0.co;2-e.

NURR1 mutations in cases of schizophrenia and manic-depressive disorder

S Buervenich  1 , A Carmine, M Arvidsson, F Xiang, Z Zhang, O Sydow, E G Jönsson, G C Sedvall, S Leonard, R G Ross, R Freedman, K V Chowdari, V L Nimgaonkar, T Perlmann, M Anvret, L Olson
Affiliations

NURR1 mutations in cases of schizophrenia and manic-depressive disorder

S Buervenich et al. Am J Med Genet. .

Abstract

Transgenic mice lacking the nuclear orphan transcription factor Nur-related receptor 1 (Nurr1) fail to develop mesencephalic dopamine neurons. There is a highly homologous NURR1 gene in humans (formerly known as NOT) which therefore constitutes a good candidate gene for neurologic and psychiatric disorders with an involvement of the dopamine neuron system, such as Parkinson's disease, schizophrenia, and manic-depression. By direct sequencing of genomic DNA, we found two different missense mutations in the third exon of NURR1 in two schizophrenic patients and another missense mutation in the same exon in an individual with manic-depressive disorder. All three mutations caused a similar reduction of in vitro transcriptional activity of NURR1 dimers of about 30-40%. Neither of these amino acid changes, nor any sequence changes whatsoever, were found in patients with Parkinson's disease or control DNA material of normal populations. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:808-813, 2000.

PubMed Disclaimer

Publication types