Mutations in NR4A2 associated with familial Parkinson disease
NR4A2, encoding a member of nuclear receptor superfamily, is essential for the differentiation of the nigral dopaminergic neurons. To determine whether NR4A2 is a susceptibility gene for Parkinson disease, we carried out genetic analyses in 201 individuals affected with Parkinson disease and 221 age...
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| Veröffentlicht in: | Nature genetics 2003-01, Vol.33 (1), p.85-89 |
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| creator | Le, Wei-dong Xu, Pingyi Jankovic, Joseph Jiang, Hong Appel, Stanley H Smith, Roy G Vassilatis, Demetrios K |
| description | NR4A2, encoding a member of nuclear receptor superfamily, is essential for the differentiation of the nigral dopaminergic neurons. To determine whether NR4A2 is a susceptibility gene for Parkinson disease, we carried out genetic analyses in 201 individuals affected with Parkinson disease and 221 age-matched unaffected controls. We identified two mutations in NR4A2 associated with Parkinson disease (−291Tdel and −245T→G), which map to the first exon of NR4A2 and affect one allele in 10 of 107 individuals with familial Parkinson disease but not in any individuals with sporadic Parkinson disease (n = 94) or in unaffected controls (n = 221). The age at onset of disease and clinical features of these ten individuals were not different from those of individuals with typical Parkinson disease. The mutations resulted in a marked decrease in NR4A2 mRNA levels in transfected cell lines and in lymphocytes of affected individuals. Additionally, mutations in NR4A2 affect transcription of the gene encoding tyrosine hydroxylase. These data suggest that mutations in NR4A2 can cause dopaminergic dysfunction, associated with Parkinson disease. |
| doi_str_mv | 10.1038/ng1066 |
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To determine whether NR4A2 is a susceptibility gene for Parkinson disease, we carried out genetic analyses in 201 individuals affected with Parkinson disease and 221 age-matched unaffected controls. We identified two mutations in NR4A2 associated with Parkinson disease (−291Tdel and −245T→G), which map to the first exon of NR4A2 and affect one allele in 10 of 107 individuals with familial Parkinson disease but not in any individuals with sporadic Parkinson disease (n = 94) or in unaffected controls (n = 221). The age at onset of disease and clinical features of these ten individuals were not different from those of individuals with typical Parkinson disease. The mutations resulted in a marked decrease in NR4A2 mRNA levels in transfected cell lines and in lymphocytes of affected individuals. Additionally, mutations in NR4A2 affect transcription of the gene encoding tyrosine hydroxylase. These data suggest that mutations in NR4A2 can cause dopaminergic dysfunction, associated with Parkinson disease.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng1066</identifier><identifier>PMID: 12496759</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Adult ; Age of Onset ; Aged ; Agriculture ; Alleles ; Animal Genetics and Genomics ; Base Sequence ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Case-Control Studies ; Cell Line ; Complications and side effects ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DNA Mutational Analysis ; DNA-Binding Proteins - genetics ; Exons - genetics ; Families & family life ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Function ; Gene mutations ; Genes ; Genetic aspects ; Genetic Predisposition to Disease - genetics ; Genetic screening ; Haplotypes ; Haplotypes - genetics ; Health aspects ; Human Genetics ; Humans ; Identification and classification ; letter ; Lymphocytes ; Male ; Medical sciences ; Methods ; Middle Aged ; Molecular and cellular biology ; Molecular genetics ; Molecular Sequence Data ; Mutagenesis. Repair ; Mutation ; Mutation - genetics ; Nervous system (semeiology, syndromes) ; Nervous system as a whole ; Neurology ; Nuclear Receptor Subfamily 4, Group A, Member 2 ; Parkinson Disease - genetics ; Parkinson's disease ; Pedigree ; Reverse Transcriptase Polymerase Chain Reaction ; Risk factors ; RNA, Messenger - genetics ; RNA, Messenger - metabolism ; Transcription Factors - genetics</subject><ispartof>Nature genetics, 2003-01, Vol.33 (1), p.85-89</ispartof><rights>Springer Nature America, Inc. 2002</rights><rights>2003 INIST-CNRS</rights><rights>COPYRIGHT 2003 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Jan 2003</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c551t-805b88fd93e5938729e85e51d80a2063a232bd0ebb32472d4b52eff68ad56add3</citedby><cites>FETCH-LOGICAL-c551t-805b88fd93e5938729e85e51d80a2063a232bd0ebb32472d4b52eff68ad56add3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,2727,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14690705$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12496759$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Le, Wei-dong</creatorcontrib><creatorcontrib>Xu, Pingyi</creatorcontrib><creatorcontrib>Jankovic, Joseph</creatorcontrib><creatorcontrib>Jiang, Hong</creatorcontrib><creatorcontrib>Appel, Stanley H</creatorcontrib><creatorcontrib>Smith, Roy G</creatorcontrib><creatorcontrib>Vassilatis, Demetrios K</creatorcontrib><title>Mutations in NR4A2 associated with familial Parkinson disease</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>NR4A2, encoding a member of nuclear receptor superfamily, is essential for the differentiation of the nigral dopaminergic neurons. To determine whether NR4A2 is a susceptibility gene for Parkinson disease, we carried out genetic analyses in 201 individuals affected with Parkinson disease and 221 age-matched unaffected controls. We identified two mutations in NR4A2 associated with Parkinson disease (−291Tdel and −245T→G), which map to the first exon of NR4A2 and affect one allele in 10 of 107 individuals with familial Parkinson disease but not in any individuals with sporadic Parkinson disease (n = 94) or in unaffected controls (n = 221). The age at onset of disease and clinical features of these ten individuals were not different from those of individuals with typical Parkinson disease. The mutations resulted in a marked decrease in NR4A2 mRNA levels in transfected cell lines and in lymphocytes of affected individuals. Additionally, mutations in NR4A2 affect transcription of the gene encoding tyrosine hydroxylase. These data suggest that mutations in NR4A2 can cause dopaminergic dysfunction, associated with Parkinson disease.</description><subject>Adult</subject><subject>Age of Onset</subject><subject>Aged</subject><subject>Agriculture</subject><subject>Alleles</subject><subject>Animal Genetics and Genomics</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Case-Control Studies</subject><subject>Cell Line</subject><subject>Complications and side effects</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>DNA Mutational Analysis</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Exons - genetics</subject><subject>Families & family life</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Function</subject><subject>Gene mutations</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genetic screening</subject><subject>Haplotypes</subject><subject>Haplotypes - genetics</subject><subject>Health aspects</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Identification and classification</subject><subject>letter</subject><subject>Lymphocytes</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Methods</subject><subject>Middle Aged</subject><subject>Molecular and cellular biology</subject><subject>Molecular genetics</subject><subject>Molecular Sequence Data</subject><subject>Mutagenesis. 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Repair</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Nervous system as a whole</topic><topic>Neurology</topic><topic>Nuclear Receptor Subfamily 4, Group A, Member 2</topic><topic>Parkinson Disease - genetics</topic><topic>Parkinson's disease</topic><topic>Pedigree</topic><topic>Reverse Transcriptase Polymerase Chain Reaction</topic><topic>Risk factors</topic><topic>RNA, Messenger - genetics</topic><topic>RNA, Messenger - metabolism</topic><topic>Transcription Factors - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Le, Wei-dong</creatorcontrib><creatorcontrib>Xu, Pingyi</creatorcontrib><creatorcontrib>Jankovic, Joseph</creatorcontrib><creatorcontrib>Jiang, Hong</creatorcontrib><creatorcontrib>Appel, Stanley H</creatorcontrib><creatorcontrib>Smith, Roy G</creatorcontrib><creatorcontrib>Vassilatis, Demetrios K</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Opposing Viewpoints</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Nature genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Le, Wei-dong</au><au>Xu, Pingyi</au><au>Jankovic, Joseph</au><au>Jiang, Hong</au><au>Appel, Stanley H</au><au>Smith, Roy G</au><au>Vassilatis, Demetrios K</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations in NR4A2 associated with familial Parkinson disease</atitle><jtitle>Nature genetics</jtitle><stitle>Nat Genet</stitle><addtitle>Nat Genet</addtitle><date>2003-01-01</date><risdate>2003</risdate><volume>33</volume><issue>1</issue><spage>85</spage><epage>89</epage><pages>85-89</pages><issn>1061-4036</issn><eissn>1546-1718</eissn><coden>NGENEC</coden><abstract>NR4A2, encoding a member of nuclear receptor superfamily, is essential for the differentiation of the nigral dopaminergic neurons. To determine whether NR4A2 is a susceptibility gene for Parkinson disease, we carried out genetic analyses in 201 individuals affected with Parkinson disease and 221 age-matched unaffected controls. We identified two mutations in NR4A2 associated with Parkinson disease (−291Tdel and −245T→G), which map to the first exon of NR4A2 and affect one allele in 10 of 107 individuals with familial Parkinson disease but not in any individuals with sporadic Parkinson disease (n = 94) or in unaffected controls (n = 221). The age at onset of disease and clinical features of these ten individuals were not different from those of individuals with typical Parkinson disease. The mutations resulted in a marked decrease in NR4A2 mRNA levels in transfected cell lines and in lymphocytes of affected individuals. Additionally, mutations in NR4A2 affect transcription of the gene encoding tyrosine hydroxylase. These data suggest that mutations in NR4A2 can cause dopaminergic dysfunction, associated with Parkinson disease.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>12496759</pmid><doi>10.1038/ng1066</doi><tpages>5</tpages></addata></record> |
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| subjects | Adult Age of Onset Aged Agriculture Alleles Animal Genetics and Genomics Base Sequence Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Case-Control Studies Cell Line Complications and side effects Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis DNA-Binding Proteins - genetics Exons - genetics Families & family life Female Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genes Genetic aspects Genetic Predisposition to Disease - genetics Genetic screening Haplotypes Haplotypes - genetics Health aspects Human Genetics Humans Identification and classification letter Lymphocytes Male Medical sciences Methods Middle Aged Molecular and cellular biology Molecular genetics Molecular Sequence Data Mutagenesis. Repair Mutation Mutation - genetics Nervous system (semeiology, syndromes) Nervous system as a whole Neurology Nuclear Receptor Subfamily 4, Group A, Member 2 Parkinson Disease - genetics Parkinson's disease Pedigree Reverse Transcriptase Polymerase Chain Reaction Risk factors RNA, Messenger - genetics RNA, Messenger - metabolism Transcription Factors - genetics |
| title | Mutations in NR4A2 associated with familial Parkinson disease |
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