Translated mutation in the Nurr1 gene as a cause for Parkinson's disease
Identifieur interne : 000845 ( Main/Corpus ); précédent : 000844; suivant : 000846Translated mutation in the Nurr1 gene as a cause for Parkinson's disease
Auteurs : David A. Grimes ; Fabin Han ; Michel Panisset ; Lemuel Racacho ; Fengxia Xiao ; Ruobing Zou ; Kelly Westaff ; Dennis E. BulmanSource :
- Movement Disorders [ 0885-3185 ] ; 2006-07.
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- KwdEn :
Abstract
Multiple genes have been now identified as causing Parkinson's disease (PD). In 2003, two mutations were identified in exon 1 of the Nurr1 gene in 10 of 107 individuals with familial PD. To date, investigators have only focused on screening for these known mutations of the Nurr1 gene. All individuals were recruited from two Parkinson's disease clinics in Canada. Following PCR amplification of each exon of the Nurr1 gene, samples underwent denaturing high‐performance liquid chromatography (DHPLC) analysis. Ten individuals also underwent direct sequencing as well as any samples where variants were identified. The Nurr1 gene was evaluated for 202 PD individuals, 37% of whom had at least one relative with PD and 100 control non‐PD individuals. Using DHPLC and direct sequencing, we did not detect any sequence variants in exon 1. Variants in amplicon 6 were seen and direct sequencing confirmed a known NI6P polymorphism in intron 6. Novel polymorphisms were also identified in exon 3 and intron 5. A novel mutation was identified in exon 3 in one nonfamilial PD individual. This heterozygous C‐to‐G transversion resulted in a serine‐to‐cysteine substitution and was not identified in any of the other 602 chromosomes screened. Mutations in the Nurr1 gene in our large cohort of familial and sporadic PD individuals are rare. The novel mutation in exon 3 is predicted to affect phosphorylation and functional studies to assess this are underway. This is the first coding mutation identified in the Nurr1 gene for Parkinson's disease. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.20820
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Grimes</name><affiliation><mods:affiliation>Department of Medicine, Division of Neurology, Ottawa Hospital, Ottawa, Ontario, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</mods:affiliation></affiliation></author><author><name sortKey="Han, Fabin" sort="Han, Fabin" uniqKey="Han F" first="Fabin" last="Han">Fabin Han</name><affiliation><mods:affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</mods:affiliation></affiliation></author><author><name sortKey="Panisset, Michel" sort="Panisset, Michel" uniqKey="Panisset M" first="Michel" last="Panisset">Michel Panisset</name><affiliation><mods:affiliation>Department of Neurology, McGill Centre for Studies in Aging, McGill University, Montreal, Quebec, Canada</mods:affiliation></affiliation></author><author><name sortKey="Racacho, Lemuel" sort="Racacho, Lemuel" uniqKey="Racacho L" first="Lemuel" last="Racacho">Lemuel Racacho</name><affiliation><mods:affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</mods:affiliation></affiliation></author><author><name sortKey="Xiao, Fengxia" sort="Xiao, Fengxia" uniqKey="Xiao F" first="Fengxia" last="Xiao">Fengxia Xiao</name><affiliation><mods:affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</mods:affiliation></affiliation></author><author><name sortKey="Zou, Ruobing" sort="Zou, Ruobing" uniqKey="Zou R" first="Ruobing" last="Zou">Ruobing Zou</name><affiliation><mods:affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</mods:affiliation></affiliation></author><author><name sortKey="Westaff, Kelly" sort="Westaff, Kelly" uniqKey="Westaff K" first="Kelly" last="Westaff">Kelly Westaff</name><affiliation><mods:affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</mods:affiliation></affiliation></author><author><name sortKey="Bulman, Dennis E" sort="Bulman, Dennis E" uniqKey="Bulman D" first="Dennis E." last="Bulman">Dennis E. 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A novel mutation was identified in exon 3 in one nonfamilial PD individual. This heterozygous C‐to‐G transversion resulted in a serine‐to‐cysteine substitution and was not identified in any of the other 602 chromosomes screened. Mutations in the Nurr1 gene in our large cohort of familial and sporadic PD individuals are rare. The novel mutation in exon 3 is predicted to affect phosphorylation and functional studies to assess this are underway. This is the first coding mutation identified in the Nurr1 gene for Parkinson's disease. © 2006 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>David A. 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Bulman PhD</name><affiliations><json:string>Department of Medicine, Division of Neurology, Ottawa Hospital, Ottawa, Ontario, Canada</json:string><json:string>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Nurr1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>NR4AZ</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item></subject><articleId><json:string>MDS20820</json:string></articleId><language><json:string>eng</json:string></language><abstract>Multiple genes have been now identified as causing Parkinson's disease (PD). In 2003, two mutations were identified in exon 1 of the Nurr1 gene in 10 of 107 individuals with familial PD. To date, investigators have only focused on screening for these known mutations of the Nurr1 gene. All individuals were recruited from two Parkinson's disease clinics in Canada. Following PCR amplification of each exon of the Nurr1 gene, samples underwent denaturing high‐performance liquid chromatography (DHPLC) analysis. Ten individuals also underwent direct sequencing as well as any samples where variants were identified. The Nurr1 gene was evaluated for 202 PD individuals, 37% of whom had at least one relative with PD and 100 control non‐PD individuals. Using DHPLC and direct sequencing, we did not detect any sequence variants in exon 1. Variants in amplicon 6 were seen and direct sequencing confirmed a known NI6P polymorphism in intron 6. Novel polymorphisms were also identified in exon 3 and intron 5. A novel mutation was identified in exon 3 in one nonfamilial PD individual. This heterozygous C‐to‐G transversion resulted in a serine‐to‐cysteine substitution and was not identified in any of the other 602 chromosomes screened. Mutations in the Nurr1 gene in our large cohort of familial and sporadic PD individuals are rare. The novel mutation in exon 3 is predicted to affect phosphorylation and functional studies to assess this are underway. 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Grimes and Han contributed equally to this study.</note><affiliation>Drs. Grimes and Han contributed equally to this study.</affiliation><note type="correspondence"><p>Correspondence: Ottawa Hospital, Civic Campus, 1053 Carling Avenue, Ottawa, K1Y 4E9, Canada</p></note><affiliation>Department of Medicine, Division of Neurology, Ottawa Hospital, Ottawa, Ontario, Canada</affiliation><affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</affiliation></author><author><persName><forename type="first">Fabin</forename><surname>Han</surname></persName><roleName type="degree">MD</roleName><note type="biography">Drs. Grimes and Han contributed equally to this study.</note><affiliation>Drs. Grimes and Han contributed equally to this study.</affiliation><affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</affiliation></author><author><persName><forename type="first">Michel</forename><surname>Panisset</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, McGill Centre for Studies in Aging, McGill University, Montreal, Quebec, Canada</affiliation></author><author><persName><forename type="first">Lemuel</forename><surname>Racacho</surname></persName><roleName type="degree">BSc</roleName><affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</affiliation></author><author><persName><forename type="first">Fengxia</forename><surname>Xiao</surname></persName><roleName type="degree">PhD</roleName><affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</affiliation></author><author><persName><forename type="first">Ruobing</forename><surname>Zou</surname></persName><affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</affiliation></author><author><persName><forename type="first">Kelly</forename><surname>Westaff</surname></persName><affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</affiliation></author><author><persName><forename type="first">Dennis E.</forename><surname>Bulman</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Medicine, Division of Neurology, Ottawa Hospital, Ottawa, Ontario, Canada</affiliation><affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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To date, investigators have only focused on screening for these known mutations of the Nurr1 gene. All individuals were recruited from two Parkinson's disease clinics in Canada. Following PCR amplification of each exon of the Nurr1 gene, samples underwent denaturing high‐performance liquid chromatography (DHPLC) analysis. Ten individuals also underwent direct sequencing as well as any samples where variants were identified. The Nurr1 gene was evaluated for 202 PD individuals, 37% of whom had at least one relative with PD and 100 control non‐PD individuals. Using DHPLC and direct sequencing, we did not detect any sequence variants in exon 1. Variants in amplicon 6 were seen and direct sequencing confirmed a known NI6P polymorphism in intron 6. Novel polymorphisms were also identified in exon 3 and intron 5. A novel mutation was identified in exon 3 in one nonfamilial PD individual. This heterozygous C‐to‐G transversion resulted in a serine‐to‐cysteine substitution and was not identified in any of the other 602 chromosomes screened. Mutations in the Nurr1 gene in our large cohort of familial and sporadic PD individuals are rare. The novel mutation in exon 3 is predicted to affect phosphorylation and functional studies to assess this are underway. 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number="1"></count><count type="tableTotal" number="0"></count><count type="referenceTotal" number="19"></count><count type="wordTotal" number="2564"></count></countGroup><titleGroup><title type="main" xml:lang="en">Translated mutation in the Nurr1 gene as a cause for Parkinson's disease</title><title type="short" xml:lang="en">Translated Mutation in Nurr1 Gene</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes" noteRef="#fn1"><personName><givenNames>David A.</givenNames><familyName>Grimes</familyName><degrees>MD</degrees></personName><contactDetails><email>dagrimes@ottawahospital.on.ca</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2" noteRef="#fn1"><personName><givenNames>Fabin</givenNames><familyName>Han</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Michel</givenNames><familyName>Panisset</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Lemuel</givenNames><familyName>Racacho</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Fengxia</givenNames><familyName>Xiao</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Ruobing</givenNames><familyName>Zou</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Kelly</givenNames><familyName>Westaff</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Dennis E.</givenNames><familyName>Bulman</familyName><degrees>PhD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="CA" type="organization"><unparsedAffiliation>Department of Medicine, Division of Neurology, Ottawa Hospital, Ottawa, Ontario, Canada</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="CA" type="organization"><unparsedAffiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="CA" type="organization"><unparsedAffiliation>Department of Neurology, McGill Centre for Studies in Aging, McGill University, Montreal, Quebec, Canada</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Nurr1</keyword><keyword xml:id="kwd2">Parkinson's disease</keyword><keyword xml:id="kwd3">NR4AZ</keyword><keyword xml:id="kwd4">genetics</keyword></keywordGroup><fundingInfo><fundingAgency>Parkinson Society Canada</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Parkinson Research Consortium, Ottawa, Canada</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Multiple genes have been now identified as causing Parkinson's disease (PD). In 2003, two mutations were identified in exon 1 of the Nurr1 gene in 10 of 107 individuals with familial PD. To date, investigators have only focused on screening for these known mutations of the Nurr1 gene. All individuals were recruited from two Parkinson's disease clinics in Canada. Following PCR amplification of each exon of the Nurr1 gene, samples underwent denaturing high‐performance liquid chromatography (DHPLC) analysis. Ten individuals also underwent direct sequencing as well as any samples where variants were identified. The Nurr1 gene was evaluated for 202 PD individuals, 37% of whom had at least one relative with PD and 100 control non‐PD individuals. Using DHPLC and direct sequencing, we did not detect any sequence variants in exon 1. Variants in amplicon 6 were seen and direct sequencing confirmed a known NI6P polymorphism in intron 6. Novel polymorphisms were also identified in exon 3 and intron 5. A novel mutation was identified in exon 3 in one nonfamilial PD individual. This heterozygous C‐to‐G transversion resulted in a serine‐to‐cysteine substitution and was not identified in any of the other 602 chromosomes screened. Mutations in the Nurr1 gene in our large cohort of familial and sporadic PD individuals are rare. The novel mutation in exon 3 is predicted to affect phosphorylation and functional studies to assess this are underway. This is the first coding mutation identified in the Nurr1 gene for Parkinson's disease. © 2006 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Drs. Grimes and Han contributed equally to this study.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Translated mutation in the Nurr1 gene as a cause for Parkinson's disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Translated Mutation in Nurr1 Gene</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Translated mutation in the Nurr1 gene as a cause for Parkinson's disease</title></titleInfo><name type="personal"><namePart type="given">David A.</namePart><namePart type="family">Grimes</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Medicine, Division of Neurology, Ottawa Hospital, Ottawa, Ontario, Canada</affiliation><affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</affiliation><description>Drs. Grimes and Han contributed equally to this study.</description><description>Correspondence: Ottawa Hospital, Civic Campus, 1053 Carling Avenue, Ottawa, K1Y 4E9, Canada</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Fabin</namePart><namePart type="family">Han</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</affiliation><description>Drs. Grimes and Han contributed equally to this study.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michel</namePart><namePart type="family">Panisset</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, McGill Centre for Studies in Aging, McGill University, Montreal, Quebec, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lemuel</namePart><namePart type="family">Racacho</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Fengxia</namePart><namePart type="family">Xiao</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ruobing</namePart><namePart type="family">Zou</namePart><affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kelly</namePart><namePart type="family">Westaff</namePart><affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Dennis E.</namePart><namePart type="family">Bulman</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Medicine, Division of Neurology, Ottawa Hospital, Ottawa, Ontario, Canada</affiliation><affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2006-07</dateIssued><dateCaptured encoding="w3cdtf">2005-02-08</dateCaptured><dateValid encoding="w3cdtf">2005-09-19</dateValid><copyrightDate encoding="w3cdtf">2006</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="references">19</extent><extent unit="words">2564</extent></physicalDescription><abstract lang="en">Multiple genes have been now identified as causing Parkinson's disease (PD). In 2003, two mutations were identified in exon 1 of the Nurr1 gene in 10 of 107 individuals with familial PD. To date, investigators have only focused on screening for these known mutations of the Nurr1 gene. All individuals were recruited from two Parkinson's disease clinics in Canada. Following PCR amplification of each exon of the Nurr1 gene, samples underwent denaturing high‐performance liquid chromatography (DHPLC) analysis. Ten individuals also underwent direct sequencing as well as any samples where variants were identified. The Nurr1 gene was evaluated for 202 PD individuals, 37% of whom had at least one relative with PD and 100 control non‐PD individuals. Using DHPLC and direct sequencing, we did not detect any sequence variants in exon 1. Variants in amplicon 6 were seen and direct sequencing confirmed a known NI6P polymorphism in intron 6. Novel polymorphisms were also identified in exon 3 and intron 5. A novel mutation was identified in exon 3 in one nonfamilial PD individual. This heterozygous C‐to‐G transversion resulted in a serine‐to‐cysteine substitution and was not identified in any of the other 602 chromosomes screened. Mutations in the Nurr1 gene in our large cohort of familial and sporadic PD individuals are rare. The novel mutation in exon 3 is predicted to affect phosphorylation and functional studies to assess this are underway. This is the first coding mutation identified in the Nurr1 gene for Parkinson's disease. © 2006 Movement Disorder Society</abstract><note type="funding">Parkinson Society Canada</note><note type="funding">Parkinson Research Consortium, Ottawa, Canada</note><subject lang="en"><genre>Keywords</genre><topic>Nurr1</topic><topic>Parkinson's disease</topic><topic>NR4AZ</topic><topic>genetics</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2006</date><detail type="volume"><caption>vol.</caption><number>21</number></detail><detail type="issue"><caption>no.</caption><number>7</number></detail><extent unit="pages"><start>906</start><end>909</end><total>4</total></extent></part></relatedItem><identifier type="istex">01B6640287AFDB5B2E7D59B6CC17ABE7138EF9ED</identifier><identifier type="DOI">10.1002/mds.20820</identifier><identifier type="ArticleID">MDS20820</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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