Lack of mutations in DJ‐1 in a cohort of Taiwanese ethnic Chinese with early‐onset parkinsonism
Identifieur interne : 002016 ( Main/Corpus ); précédent : 002015; suivant : 002017Lack of mutations in DJ‐1 in a cohort of Taiwanese ethnic Chinese with early‐onset parkinsonism
Auteurs : Paul J. Lockhart ; Rebecca Bounds ; Mary Hulihan ; Jennifer Kachergus ; Sarah Lincoln ; Chin-Hsien Lin ; Ruey-Meei Wu ; Matthew J. FarrerSource :
- Movement Disorders [ 0885-3185 ] ; 2004-09.
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Abstract
Recently, mutations in DJ‐1 (PARK7) were described as a novel cause of early‐onset parkinsonism. We analysed the DJ‐1 gene in a cohort of patients originating from Taiwan with early‐onset Parkinson's disease; 41 subjects were clinically and genetically examined. These patients were evaluated previously for the presence of parkin mutations (PARK2) and were found to be negative. The entire DJ‐1 open‐reading frame was amplified from cDNA, analysed for size alterations indicative of mutations affecting splice motifs, and sequenced to identify coding variants. In addition, we developed quantitative polymerase chain reaction assays to examine the genomic copy number of DJ‐1 exons. No potential splice site mutations, coding sequence alterations, or exon deletion/duplications were detected. Our results and previous studies suggest that alterations to DJ‐1 are not a common cause of early‐onset Parkinson's disease and other causes, genetic and/or environmental, remain to be identified. © 2004 Movement Disorder Society
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DOI: 10.1002/mds.20082
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Lack of mutations in DJ‐1 in a cohort of Taiwanese ethnic Chinese with early‐onset parkinsonism</title><author><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Bounds, Rebecca" sort="Bounds, Rebecca" uniqKey="Bounds R" first="Rebecca" last="Bounds">Rebecca Bounds</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Hulihan, Mary" sort="Hulihan, Mary" uniqKey="Hulihan M" first="Mary" last="Hulihan">Mary Hulihan</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Lincoln, Sarah" sort="Lincoln, Sarah" uniqKey="Lincoln S" first="Sarah" last="Lincoln">Sarah Lincoln</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Lin, Chin Sien" sort="Lin, Chin Sien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name><affiliation><mods:affiliation>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan (ROC)</mods:affiliation></affiliation></author><author><name sortKey="Wu, Ruey Eei" sort="Wu, Ruey Eei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><affiliation><mods:affiliation>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan (ROC)</mods:affiliation></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. 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We analysed the DJ‐1 gene in a cohort of patients originating from Taiwan with early‐onset Parkinson's disease; 41 subjects were clinically and genetically examined. These patients were evaluated previously for the presence of parkin mutations (PARK2) and were found to be negative. The entire DJ‐1 open‐reading frame was amplified from cDNA, analysed for size alterations indicative of mutations affecting splice motifs, and sequenced to identify coding variants. In addition, we developed quantitative polymerase chain reaction assays to examine the genomic copy number of DJ‐1 exons. No potential splice site mutations, coding sequence alterations, or exon deletion/duplications were detected. 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These patients were evaluated previously for the presence of parkin mutations (PARK2) and were found to be negative. The entire DJ‐1 open‐reading frame was amplified from cDNA, analysed for size alterations indicative of mutations affecting splice motifs, and sequenced to identify coding variants. In addition, we developed quantitative polymerase chain reaction assays to examine the genomic copy number of DJ‐1 exons. No potential splice site mutations, coding sequence alterations, or exon deletion/duplications were detected. 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Udall National Institutes of Health Parkinson's Disease Center of Excellence</note><note>National Science Council (Taipei, Taiwan, ROC) - No. NSC 91‐2314‐B‐002‐188; No. NSC 92‐2314‐B‐002‐085;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Lack of mutations in DJ‐1 in a cohort of Taiwanese ethnic Chinese with early‐onset parkinsonism</title><author><persName><forename type="first">Paul J.</forename><surname>Lockhart</surname></persName><roleName type="degree">MD</roleName><note type="correspondence"><p>Correspondence: Birdsall Building, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224</p></note><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Rebecca</forename><surname>Bounds</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Mary</forename><surname>Hulihan</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Jennifer</forename><surname>Kachergus</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Sarah</forename><surname>Lincoln</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Chin‐Hsien</forename><surname>Lin</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan (ROC)</affiliation></author><author><persName><forename type="first">Ruey‐Meei</forename><surname>Wu</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan (ROC)</affiliation></author><author><persName><forename type="first">Matthew J.</forename><surname>Farrer</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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We analysed the DJ‐1 gene in a cohort of patients originating from Taiwan with early‐onset Parkinson's disease; 41 subjects were clinically and genetically examined. These patients were evaluated previously for the presence of parkin mutations (PARK2) and were found to be negative. The entire DJ‐1 open‐reading frame was amplified from cDNA, analysed for size alterations indicative of mutations affecting splice motifs, and sequenced to identify coding variants. In addition, we developed quantitative polymerase chain reaction assays to examine the genomic copy number of DJ‐1 exons. No potential splice site mutations, coding sequence alterations, or exon deletion/duplications were detected. 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Udall National Institutes of Health Parkinson's Disease Center of Excellence</fundingAgency></fundingInfo><fundingInfo><fundingAgency>National Science Council (Taipei, Taiwan, ROC)</fundingAgency><fundingNumber>NSC 91‐2314‐B‐002‐188</fundingNumber><fundingNumber>NSC 92‐2314‐B‐002‐085</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Recently, mutations in <i>DJ‐1</i> (PARK7) were described as a novel cause of early‐onset parkinsonism. We analysed the <i>DJ‐1</i> gene in a cohort of patients originating from Taiwan with early‐onset Parkinson's disease; 41 subjects were clinically and genetically examined. These patients were evaluated previously for the presence of parkin mutations (PARK2) and were found to be negative. The entire <i>DJ‐1</i> open‐reading frame was amplified from cDNA, analysed for size alterations indicative of mutations affecting splice motifs, and sequenced to identify coding variants. In addition, we developed quantitative polymerase chain reaction assays to examine the genomic copy number of <i>DJ‐1</i> exons. No potential splice site mutations, coding sequence alterations, or exon deletion/duplications were detected. Our results and previous studies suggest that alterations to <i>DJ‐1</i> are not a common cause of early‐onset Parkinson's disease and other causes, genetic and/or environmental, remain to be identified. © 2004 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Lack of mutations in DJ‐1 in a cohort of Taiwanese ethnic Chinese with early‐onset parkinsonism</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>DJ‐1 and Early‐Onset Parkinson's Disease</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Lack of mutations in DJ‐1 in a cohort of Taiwanese ethnic Chinese with early‐onset parkinsonism</title></titleInfo><name type="personal"><namePart type="given">Paul J.</namePart><namePart type="family">Lockhart</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation><description>Correspondence: Birdsall Building, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rebecca</namePart><namePart type="family">Bounds</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mary</namePart><namePart type="family">Hulihan</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jennifer</namePart><namePart type="family">Kachergus</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sarah</namePart><namePart type="family">Lincoln</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Chin‐Hsien</namePart><namePart type="family">Lin</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan (ROC)</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ruey‐Meei</namePart><namePart type="family">Wu</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan (ROC)</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Matthew J.</namePart><namePart type="family">Farrer</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</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">2004-09</dateIssued><dateCaptured encoding="w3cdtf">2003-08-20</dateCaptured><dateValid encoding="w3cdtf">2003-12-19</dateValid><copyrightDate encoding="w3cdtf">2004</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">2</extent><extent unit="references">43</extent><extent unit="words">3692</extent></physicalDescription><abstract lang="en">Recently, mutations in DJ‐1 (PARK7) were described as a novel cause of early‐onset parkinsonism. We analysed the DJ‐1 gene in a cohort of patients originating from Taiwan with early‐onset Parkinson's disease; 41 subjects were clinically and genetically examined. These patients were evaluated previously for the presence of parkin mutations (PARK2) and were found to be negative. The entire DJ‐1 open‐reading frame was amplified from cDNA, analysed for size alterations indicative of mutations affecting splice motifs, and sequenced to identify coding variants. In addition, we developed quantitative polymerase chain reaction assays to examine the genomic copy number of DJ‐1 exons. No potential splice site mutations, coding sequence alterations, or exon deletion/duplications were detected. Our results and previous studies suggest that alterations to DJ‐1 are not a common cause of early‐onset Parkinson's disease and other causes, genetic and/or environmental, remain to be identified. © 2004 Movement Disorder Society</abstract><note type="funding">M.H. Udall National Institutes of Health Parkinson's Disease Center of Excellence</note><note type="funding">National Science Council (Taipei, Taiwan, ROC) - No. NSC 91‐2314‐B‐002‐188; No. NSC 92‐2314‐B‐002‐085; </note><subject lang="en"><genre>Keywords</genre><topic>PARK7</topic><topic>Parkinson's disease</topic><topic>genetics</topic><topic>Taiwan</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Brief Report</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>2004</date><detail type="volume"><caption>vol.</caption><number>19</number></detail><detail type="issue"><caption>no.</caption><number>9</number></detail><extent unit="pages"><start>1065</start><end>1069</end><total>5</total></extent></part></relatedItem><identifier type="istex">00AC4555CB9F8935D3A284FED179B17F0BA6727F</identifier><identifier type="DOI">10.1002/mds.20082</identifier><identifier type="ArticleID">MDS20082</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2004 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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