Lack of mutations in DJ‐1 in a cohort of Taiwanese ethnic Chinese with early‐onset parkinsonism
Identifieur interne : 003C74 ( Main/Exploration ); précédent : 003C73; suivant : 003C75Lack of mutations in DJ‐1 in a cohort of Taiwanese ethnic Chinese with early‐onset parkinsonism
Auteurs : Paul J. Lockhart [États-Unis] ; Rebecca Bounds [États-Unis] ; Mary Hulihan [États-Unis] ; Jennifer Kachergus [États-Unis] ; Sarah Lincoln [États-Unis] ; Chin-Hsien Lin ; Ruey-Meei Wu ; Matthew J. Farrer [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-09.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : République populaire de Chine, Taïwan.
English descriptors
- KwdEn :
- Adult, Age of Onset, China (ethnology), Chinese, Cohort Studies, DNA, Complementary (genetics), Electrophoresis, Agar Gel, Exons (genetics), Female, Gene Deletion, Humans, Intracellular Signaling Peptides and Proteins, Male, Middle Aged, Mutation, Nervous system diseases, Oncogene Proteins (genetics), PARK7, Parkinson Disease (ethnology), Parkinson Disease (genetics), Parkinson's disease, Parkinsonism, Point Mutation (genetics), Reverse Transcriptase Polymerase Chain Reaction, Taiwan, genetics.
- MESH :
- chemical , genetics : DNA, Complementary, Oncogene Proteins.
- geographic , ethnology : China.
- ethnology : Parkinson Disease.
- genetics : Exons, Parkinson Disease, Point Mutation.
- Adult, Age of Onset, Cohort Studies, Electrophoresis, Agar Gel, Female, Gene Deletion, Humans, Intracellular Signaling Peptides and Proteins, Male, Middle Aged, Reverse Transcriptase Polymerase Chain Reaction, Taiwan.
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
Url:
DOI: 10.1002/mds.20082
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002039
- to stream Istex, to step Curation: 002039
- to stream Istex, to step Checkpoint: 002655
- to stream PubMed, to step Corpus: 003354
- to stream PubMed, to step Curation: 003354
- to stream PubMed, to step Checkpoint: 003426
- to stream Ncbi, to step Merge: 000F34
- to stream Ncbi, to step Curation: 000F34
- to stream Ncbi, to step Checkpoint: 000F34
- to stream Main, to step Merge: 005632
- to stream PascalFrancis, to step Corpus: 002062
- to stream PascalFrancis, to step Curation: 000C59
- to stream PascalFrancis, to step Checkpoint: 002118
- to stream Main, to step Merge: 005956
- to stream Main, to step Curation: 003C74
Le document en format XML
<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></author><author><name sortKey="Bounds, Rebecca" sort="Bounds, Rebecca" uniqKey="Bounds R" first="Rebecca" last="Bounds">Rebecca Bounds</name></author><author><name sortKey="Hulihan, Mary" sort="Hulihan, Mary" uniqKey="Hulihan M" first="Mary" last="Hulihan">Mary Hulihan</name></author><author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name></author><author><name sortKey="Lincoln, Sarah" sort="Lincoln, Sarah" uniqKey="Lincoln S" first="Sarah" last="Lincoln">Sarah Lincoln</name></author><author><name sortKey="Lin, Chin Sien" sort="Lin, Chin Sien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name></author><author><name sortKey="Wu, Ruey Eei" sort="Wu, Ruey Eei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:00AC4555CB9F8935D3A284FED179B17F0BA6727F</idno><date when="2004" year="2004">2004</date><idno type="doi">10.1002/mds.20082</idno><idno type="url">https://api.istex.fr/document/00AC4555CB9F8935D3A284FED179B17F0BA6727F/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002039</idno><idno type="wicri:Area/Istex/Curation">002039</idno><idno type="wicri:Area/Istex/Checkpoint">002655</idno><idno type="wicri:doubleKey">0885-3185:2004:Lockhart P:lack:of:mutations</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:15372597</idno><idno type="wicri:Area/PubMed/Corpus">003354</idno><idno type="wicri:Area/PubMed/Curation">003354</idno><idno type="wicri:Area/PubMed/Checkpoint">003426</idno><idno type="wicri:Area/Ncbi/Merge">000F34</idno><idno type="wicri:Area/Ncbi/Curation">000F34</idno><idno type="wicri:Area/Ncbi/Checkpoint">000F34</idno><idno type="wicri:doubleKey">0885-3185:2004:Lockhart P:lack:of:mutations</idno><idno type="wicri:Area/Main/Merge">005632</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:04-0549672</idno><idno type="wicri:Area/PascalFrancis/Corpus">002062</idno><idno type="wicri:Area/PascalFrancis/Curation">000C59</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">002118</idno><idno type="wicri:doubleKey">0885-3185:2004:Lockhart P:lack:of:mutations</idno><idno type="wicri:Area/Main/Merge">005956</idno><idno type="wicri:Area/Main/Curation">003C74</idno><idno type="wicri:Area/Main/Exploration">003C74</idno></publicationStmt><sourceDesc><biblStruct><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><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Bounds, Rebecca" sort="Bounds, Rebecca" uniqKey="Bounds R" first="Rebecca" last="Bounds">Rebecca Bounds</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Hulihan, Mary" sort="Hulihan, Mary" uniqKey="Hulihan M" first="Mary" last="Hulihan">Mary Hulihan</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Lincoln, Sarah" sort="Lincoln, Sarah" uniqKey="Lincoln S" first="Sarah" last="Lincoln">Sarah Lincoln</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></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><wicri:noCountry code="subField">Taiwan (ROC)</wicri:noCountry></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><wicri:noCountry code="subField">Taiwan (ROC)</wicri:noCountry></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2004-09">2004-09</date><biblScope unit="vol">19</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1065">1065</biblScope><biblScope unit="page" to="1069">1069</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">00AC4555CB9F8935D3A284FED179B17F0BA6727F</idno><idno type="DOI">10.1002/mds.20082</idno><idno type="ArticleID">MDS20082</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>China (ethnology)</term><term>Chinese</term><term>Cohort Studies</term><term>DNA, Complementary (genetics)</term><term>Electrophoresis, Agar Gel</term><term>Exons (genetics)</term><term>Female</term><term>Gene Deletion</term><term>Humans</term><term>Intracellular Signaling Peptides and Proteins</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Nervous system diseases</term><term>Oncogene Proteins (genetics)</term><term>PARK7</term><term>Parkinson Disease (ethnology)</term><term>Parkinson Disease (genetics)</term><term>Parkinson's disease</term><term>Parkinsonism</term><term>Point Mutation (genetics)</term><term>Reverse Transcriptase Polymerase Chain Reaction</term><term>Taiwan</term><term>genetics</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA, Complementary</term><term>Oncogene Proteins</term></keywords><keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>China</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Chinois</term><term>Mutation</term><term>Parkinsonisme</term><term>Système nerveux pathologie</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>République populaire de Chine</term><term>Taïwan</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Parkinson Disease</term><term>Point Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Cohort Studies</term><term>Electrophoresis, Agar Gel</term><term>Female</term><term>Gene Deletion</term><term>Humans</term><term>Intracellular Signaling Peptides and Proteins</term><term>Male</term><term>Middle Aged</term><term>Reverse Transcriptase Polymerase Chain Reaction</term><term>Taiwan</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml: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</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Floride</li></region></list><tree><noCountry><name sortKey="Lin, Chin Sien" sort="Lin, Chin Sien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name><name sortKey="Wu, Ruey Eei" sort="Wu, Ruey Eei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name></noCountry><country name="États-Unis"><region name="Floride"><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name></region><name sortKey="Bounds, Rebecca" sort="Bounds, Rebecca" uniqKey="Bounds R" first="Rebecca" last="Bounds">Rebecca Bounds</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><name sortKey="Hulihan, Mary" sort="Hulihan, Mary" uniqKey="Hulihan M" first="Mary" last="Hulihan">Mary Hulihan</name><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><name sortKey="Lincoln, Sarah" sort="Lincoln, Sarah" uniqKey="Lincoln S" first="Sarah" last="Lincoln">Sarah Lincoln</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003C74 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003C74 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:00AC4555CB9F8935D3A284FED179B17F0BA6727F
|texte= Lack of mutations in DJ‐1 in a cohort of Taiwanese ethnic Chinese with early‐onset parkinsonism
}}
| This area was generated with Dilib version V0.6.23. |  |