Genomewide SNP assay reveals mutations underlying Parkinson disease
Identifieur interne : 000D90 ( Main/Exploration ); précédent : 000D89; suivant : 000D91Genomewide SNP assay reveals mutations underlying Parkinson disease
Auteurs : Javier Simon-Sanchez [États-Unis, Espagne] ; Sonja Scholz [États-Unis, Royaume-Uni] ; Maria Del Mar Matarin [États-Unis] ; Hon-Chung Fung [Royaume-Uni, États-Unis] ; Dena Hernandez [États-Unis] ; J Raphael Gibbs [Royaume-Uni, États-Unis] ; Angela Britton [États-Unis] ; John Hardy [Royaume-Uni] ; Andrew Singleton [États-Unis]Source :
- Human Mutation [ 1059-7794 ] ; 2008-02.
English descriptors
- KwdEn :
- CNV, PARK2, Parkinson, SNP, deletion, duplication, genomewide.
Abstract
Technologies that allow genotyping of more than 100,000 polymorphisms in a single assay enable the execution of genomewide SNP (GWSNP) association studies to identify common genetic variants underlying traits. Less appreciated is the ability of GWSNP assays to map and directly identify rare mutations that cause disease. Here we show the use of this approach in identifying rare structural mutations involved in disease using a large cohort of Parkinson disease (PD) patients and neurologically normal controls by examination of genotype data and copy number metrics. This approach revealed a patient with homozygous mutation at the PARK2 locus. In addition, two heterozygous deletion mutations and five heterozygous duplication mutations within PARK2 were identified in PD subjects and controls. All mutations were confirmed by independent gene dosage experiments. These data demonstrate the utility of this approach in the direct detection of mutations that underlie disease. Hum Mutat 29(2), 315–322, 2008. Published 2007 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/humu.20626
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genomewide SNP assay reveals mutations underlying Parkinson disease</title><author><name sortKey="Simon Anchez, Javier" sort="Simon Anchez, Javier" uniqKey="Simon Anchez J" first="Javier" last="Simon-Sanchez">Javier Simon-Sanchez</name></author><author><name sortKey="Scholz, Sonja" sort="Scholz, Sonja" uniqKey="Scholz S" first="Sonja" last="Scholz">Sonja Scholz</name></author><author><name sortKey="Del Mar Matarin, Maria" sort="Del Mar Matarin, Maria" uniqKey="Del Mar Matarin M" first="Maria" last="Del Mar Matarin">Maria Del Mar Matarin</name></author><author><name sortKey="Fung, Hon Hung" sort="Fung, Hon Hung" uniqKey="Fung H" first="Hon-Chung" last="Fung">Hon-Chung Fung</name></author><author><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name></author><author><name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J Raphael" last="Gibbs">J Raphael Gibbs</name></author><author><name sortKey="Britton, Angela" sort="Britton, Angela" uniqKey="Britton A" first="Angela" last="Britton">Angela Britton</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:9462D0CC5554EE859366158DF54E7AE2E171CD30</idno><date when="2008" year="2008">2008</date><idno type="doi">10.1002/humu.20626</idno><idno type="url">https://api.istex.fr/document/9462D0CC5554EE859366158DF54E7AE2E171CD30/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">002514</idno><idno type="wicri:Area/Main/Curation">002183</idno><idno type="wicri:Area/Main/Exploration">000D90</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Genomewide SNP assay reveals mutations underlying Parkinson disease</title><author><name sortKey="Simon Anchez, Javier" sort="Simon Anchez, Javier" uniqKey="Simon Anchez J" first="Javier" last="Simon-Sanchez">Javier Simon-Sanchez</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Molecular Genetics Unit, National Institutes of Health, Bethesda</wicri:cityArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Unidad de Genética Molecular, Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia‐Consejo Superior de Investigaciones Sientificas (CSIC), Valencia</wicri:regionArea><wicri:noRegion>Valencia</wicri:noRegion></affiliation></author><author><name sortKey="Scholz, Sonja" sort="Scholz, Sonja" uniqKey="Scholz S" first="Sonja" last="Scholz">Sonja Scholz</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Molecular Genetics Unit, National Institutes of Health, Bethesda</wicri:cityArea></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Institute and Departments of Molecular Neuroscience and Neurodegenerative Disease, Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Del Mar Matarin, Maria" sort="Del Mar Matarin, Maria" uniqKey="Del Mar Matarin M" first="Maria" last="Del Mar Matarin">Maria Del Mar Matarin</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Molecular Genetics Unit, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Fung, Hon Hung" sort="Fung, Hon Hung" uniqKey="Fung H" first="Hon-Chung" last="Fung">Hon-Chung Fung</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Institute and Departments of Molecular Neuroscience and Neurodegenerative Disease, Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Molecular Genetics Unit, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J Raphael" last="Gibbs">J Raphael Gibbs</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Institute and Departments of Molecular Neuroscience and Neurodegenerative Disease, Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Computational Biology Core, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Britton, Angela" sort="Britton, Angela" uniqKey="Britton A" first="Angela" last="Britton">Angela Britton</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Molecular Genetics Unit, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Institute and Departments of Molecular Neuroscience and Neurodegenerative Disease, Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Molecular Genetics Unit, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Mutation</title><title level="j" type="abbrev">Hum. Mutat.</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-02">2008-02</date><biblScope unit="volume">29</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="315">315</biblScope><biblScope unit="page" to="322">322</biblScope></imprint><idno type="ISSN">1059-7794</idno></series><idno type="istex">9462D0CC5554EE859366158DF54E7AE2E171CD30</idno><idno type="DOI">10.1002/humu.20626</idno><idno type="ArticleID">HUMU20626</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>CNV</term><term>PARK2</term><term>Parkinson</term><term>SNP</term><term>deletion</term><term>duplication</term><term>genomewide</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Technologies that allow genotyping of more than 100,000 polymorphisms in a single assay enable the execution of genomewide SNP (GWSNP) association studies to identify common genetic variants underlying traits. Less appreciated is the ability of GWSNP assays to map and directly identify rare mutations that cause disease. Here we show the use of this approach in identifying rare structural mutations involved in disease using a large cohort of Parkinson disease (PD) patients and neurologically normal controls by examination of genotype data and copy number metrics. This approach revealed a patient with homozygous mutation at the PARK2 locus. In addition, two heterozygous deletion mutations and five heterozygous duplication mutations within PARK2 were identified in PD subjects and controls. All mutations were confirmed by independent gene dosage experiments. These data demonstrate the utility of this approach in the direct detection of mutations that underlie disease. Hum Mutat 29(2), 315–322, 2008. Published 2007 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Espagne</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Maryland</li></region><settlement><li>Londres</li></settlement></list><tree><country name="États-Unis"><region name="Maryland"><name sortKey="Simon Anchez, Javier" sort="Simon Anchez, Javier" uniqKey="Simon Anchez J" first="Javier" last="Simon-Sanchez">Javier Simon-Sanchez</name></region><name sortKey="Britton, Angela" sort="Britton, Angela" uniqKey="Britton A" first="Angela" last="Britton">Angela Britton</name><name sortKey="Del Mar Matarin, Maria" sort="Del Mar Matarin, Maria" uniqKey="Del Mar Matarin M" first="Maria" last="Del Mar Matarin">Maria Del Mar Matarin</name><name sortKey="Fung, Hon Hung" sort="Fung, Hon Hung" uniqKey="Fung H" first="Hon-Chung" last="Fung">Hon-Chung Fung</name><name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J Raphael" last="Gibbs">J Raphael Gibbs</name><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name><name sortKey="Scholz, Sonja" sort="Scholz, Sonja" uniqKey="Scholz S" first="Sonja" last="Scholz">Sonja Scholz</name><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></country><country name="Espagne"><noRegion><name sortKey="Simon Anchez, Javier" sort="Simon Anchez, Javier" uniqKey="Simon Anchez J" first="Javier" last="Simon-Sanchez">Javier Simon-Sanchez</name></noRegion></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Scholz, Sonja" sort="Scholz, Sonja" uniqKey="Scholz S" first="Sonja" last="Scholz">Sonja Scholz</name></region><name sortKey="Fung, Hon Hung" sort="Fung, Hon Hung" uniqKey="Fung H" first="Hon-Chung" last="Fung">Hon-Chung Fung</name><name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J Raphael" last="Gibbs">J Raphael Gibbs</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000D90 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000D90 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:9462D0CC5554EE859366158DF54E7AE2E171CD30
|texte= Genomewide SNP assay reveals mutations underlying Parkinson disease
}}
| This area was generated with Dilib version V0.6.23. |  |