Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans
Identifieur interne : 000345 ( Main/Curation ); précédent : 000344; suivant : 000346Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans
Auteurs : Suzanne Lesage ; Etienne Patin ; Christel Condroyer ; Anne-Louise Leutenegger ; Ebba Lohmann ; Nir Giladi ; Anat Bar-Shira ; Soraya Belarbi ; Nassima Hecham ; Pierre Pollak ; Anne-Marie Ouvrard-Hernandez ; Soraya Bardien ; Jonathan Carr ; Traki Benhassine ; Hiroyuki Tomiyama ; Caroline Pirkevi ; Tarik Hamadouche ; Ccile Cazeneuve [France] ; A. Nazli Basak ; Nobutaka Hattori ; Alexandra Drr [France] ; Meriem Tazir ; Avi Orr-Urtreger ; Lluis Quintana-Murci ; Alexis Brice [France] ; Y. Agid ; A.-M. Bonnet ; M. Borg ; A. Brice ; E. Broussolle ; Ph. Damier ; A. Deste ; A. Drr ; F. Durif ; E. Lohmann ; M. Martinez ; C. Penet ; P. Pollak ; O. Rascol ; F. Tison ; C. Tranchant ; A. Troiano ; M. Vrin ; F. Viallet ; M. VidailhetSource :
- Human Molecular Genetics [ 0964-6906 ] ; 2010-05-15.
Abstract
Mutations in the leucine-rich-repeat kinase 2 (LRRK2) gene have been identified in families with autosomal dominant Parkinson's disease (PD) and in sporadic cases; the G2019S mutation is the single most frequent. Intriguingly, the frequency of this mutation in PD patients varies greatly among ethnic groups and geographic origins: it is present at <0.1 in East Asia, 2 in European-descent patients and can reach frequencies of up to 1540 in PD Ashkenazi Jews and North African Arabs. To ascertain the evolutionary dynamics of the G2019S mutation in different populations, we genotyped 74 markers spanning a 16 Mb genomic region around G2019S, in 191 individuals carrying the mutation from 126 families of different origins. Sixty-seven families were of North-African Arab origin, 18 were of North/Western European descent, 37 were of Jewish origin, mostly from Eastern Europe, one was from Japan, one from Turkey and two were of mixed origins. We found the G2019S mutation on three different haplotypes. Network analyses of the three carrier haplotypes showed that G2019S arose independently at least twice in humans. In addition, the population distribution of the intra-allelic diversity of the most widespread carrier haplotype, together with estimations of the age of G2019S determined by two different methods, suggests that one of the founding G2019S mutational events occurred in the Near East at least 4000 years ago.
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DOI: 10.1093/hmg/ddq081
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Suzanne Lesage<affiliation><mods:affiliation>INSERM, UMRS975 (Formerly UMRS679), Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Institut Pasteur, Human Evolutionary Genetics, CNRS URA3012, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>INSERM, UMRS975 (Formerly UMRS679), Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>INSERM, U946, Fondation Jean Dausset-CEPH, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Paris-Diderot University, Institut Universistaire d'Hmatologie, paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Paris-Diderot University, Institut Universistaire d'Hmatologie, paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>INSERM, UMRS975 (Formerly UMRS679), Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Movement Disorders Unit Parkinson Center Department of Neurology and</mods:affiliation><wicri:noCountry code="no comma">Movement Disorders Unit Parkinson Center Department of Neurology and</wicri:noCountry></affiliation><affiliation><mods:affiliation>The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Service de Neurologie, CHU Mustapha, Alger, Algeria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Service de Neurologie, CHU Mustapha, Alger, Algeria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Service de Neurologie, CHU de Grenoble, Grenoble, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Service de Neurologie, CHU de Grenoble, Grenoble, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Division of Neurology, University of Stellenbosch, Cape Town, South Africa,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Division of Neurology, University of Stellenbosch, Cape Town, South Africa,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Laboratoire de biologie molculaire, Universit de Bab Ezzouar, Alger, Algrie,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Neurodegeneration Research Laboratory, Molecular Biology and Genetics Department, Boazii University, Istanbul, Turkey,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Laboratoire de biologie molculaire, Universit M'hamed Bougara, Boumerdes, Algeria and</mods:affiliation><wicri:noCountry code="subField">Algeria and</wicri:noCountry></affiliation><affiliation><mods:affiliation>Neurodegeneration Research Laboratory, Molecular Biology and Genetics Department, Boazii University, Istanbul, Turkey,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>INSERM, UMRS975 (Formerly UMRS679), Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris</wicri:regionArea></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris</wicri:regionArea></affiliation><affiliation><mods:affiliation>Service de Neurologie, CHU Mustapha, Alger, Algeria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Institut Pasteur, Human Evolutionary Genetics, CNRS URA3012, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>INSERM, UMRS975 (Formerly UMRS679), Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: alexis.brice@upmc.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: alexis.brice@upmc.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation>Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title>Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans</title><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><mods:affiliation>INSERM, UMRS975 (Formerly UMRS679), Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Patin, Etienne" sort="Patin, Etienne" uniqKey="Patin E" first="Etienne" last="Patin">Etienne Patin</name><affiliation><mods:affiliation>Institut Pasteur, Human Evolutionary Genetics, CNRS URA3012, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Condroyer, Christel" sort="Condroyer, Christel" uniqKey="Condroyer C" first="Christel" last="Condroyer">Christel Condroyer</name><affiliation><mods:affiliation>INSERM, UMRS975 (Formerly UMRS679), Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name><affiliation><mods:affiliation>INSERM, U946, Fondation Jean Dausset-CEPH, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Paris-Diderot University, Institut Universistaire d'Hmatologie, paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><affiliation><mods:affiliation>INSERM, UMRS975 (Formerly UMRS679), Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Giladi, Nir" sort="Giladi, Nir" uniqKey="Giladi N" first="Nir" last="Giladi">Nir Giladi</name><affiliation><mods:affiliation>Movement Disorders Unit Parkinson Center Department of Neurology and</mods:affiliation><wicri:noCountry code="no comma">Movement Disorders Unit Parkinson Center Department of Neurology and</wicri:noCountry></affiliation><affiliation><mods:affiliation>The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Bar Shira, Anat" sort="Bar Shira, Anat" uniqKey="Bar Shira A" first="Anat" last="Bar-Shira">Anat Bar-Shira</name><affiliation><mods:affiliation>Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Belarbi, Soraya" sort="Belarbi, Soraya" uniqKey="Belarbi S" first="Soraya" last="Belarbi">Soraya Belarbi</name><affiliation><mods:affiliation>Service de Neurologie, CHU Mustapha, Alger, Algeria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Hecham, Nassima" sort="Hecham, Nassima" uniqKey="Hecham N" first="Nassima" last="Hecham">Nassima Hecham</name><affiliation><mods:affiliation>Service de Neurologie, CHU Mustapha, Alger, Algeria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name><affiliation><mods:affiliation>Service de Neurologie, CHU de Grenoble, Grenoble, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Ouvrard Hernandez, Anne Marie" sort="Ouvrard Hernandez, Anne Marie" uniqKey="Ouvrard Hernandez A" first="Anne-Marie" last="Ouvrard-Hernandez">Anne-Marie Ouvrard-Hernandez</name><affiliation><mods:affiliation>Service de Neurologie, CHU de Grenoble, Grenoble, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Bardien, Soraya" sort="Bardien, Soraya" uniqKey="Bardien S" first="Soraya" last="Bardien">Soraya Bardien</name><affiliation><mods:affiliation>Division of Neurology, University of Stellenbosch, Cape Town, South Africa,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name><affiliation><mods:affiliation>Division of Neurology, University of Stellenbosch, Cape Town, South Africa,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Benhassine, Traki" sort="Benhassine, Traki" uniqKey="Benhassine T" first="Traki" last="Benhassine">Traki Benhassine</name><affiliation><mods:affiliation>Laboratoire de biologie molculaire, Universit de Bab Ezzouar, Alger, Algrie,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Pirkevi, Caroline" sort="Pirkevi, Caroline" uniqKey="Pirkevi C" first="Caroline" last="Pirkevi">Caroline Pirkevi</name><affiliation><mods:affiliation>Neurodegeneration Research Laboratory, Molecular Biology and Genetics Department, Boazii University, Istanbul, Turkey,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Hamadouche, Tarik" sort="Hamadouche, Tarik" uniqKey="Hamadouche T" first="Tarik" last="Hamadouche">Tarik Hamadouche</name><affiliation><mods:affiliation>Laboratoire de biologie molculaire, Universit M'hamed Bougara, Boumerdes, Algeria and</mods:affiliation><wicri:noCountry code="subField">Algeria and</wicri:noCountry></affiliation></author><author><name sortKey="Cazeneuve, Ccile" sort="Cazeneuve, Ccile" uniqKey="Cazeneuve C" first="Ccile" last="Cazeneuve">Ccile Cazeneuve</name><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Basak, A Nazli" sort="Basak, A Nazli" uniqKey="Basak A" first="A. Nazli" last="Basak">A. Nazli Basak</name><affiliation><mods:affiliation>Neurodegeneration Research Laboratory, Molecular Biology and Genetics Department, Boazii University, Istanbul, Turkey,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Drr, Alexandra" sort="Drr, Alexandra" uniqKey="Drr A" first="Alexandra" last="Drr">Alexandra Drr</name><affiliation><mods:affiliation>INSERM, UMRS975 (Formerly UMRS679), Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Tazir, Meriem" sort="Tazir, Meriem" uniqKey="Tazir M" first="Meriem" last="Tazir">Meriem Tazir</name><affiliation><mods:affiliation>Service de Neurologie, CHU Mustapha, Alger, Algeria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Orr Urtreger, Avi" sort="Orr Urtreger, Avi" uniqKey="Orr Urtreger A" first="Avi" last="Orr-Urtreger">Avi Orr-Urtreger</name><affiliation><mods:affiliation>Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Quintana Murci, Lluis" sort="Quintana Murci, Lluis" uniqKey="Quintana Murci L" first="Lluis" last="Quintana-Murci">Lluis Quintana-Murci</name><affiliation><mods:affiliation>Institut Pasteur, Human Evolutionary Genetics, CNRS URA3012, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><mods:affiliation>INSERM, UMRS975 (Formerly UMRS679), Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: alexis.brice@upmc.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation></author><author wicri:is="80%"><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y." last="Agid">Y. Agid</name></author><author wicri:is="80%"><name sortKey="Bonnet, A M" sort="Bonnet, A M" uniqKey="Bonnet A" first="A.-M." last="Bonnet">A.-M. Bonnet</name></author><author wicri:is="80%"><name sortKey="Borg, M" sort="Borg, M" uniqKey="Borg M" first="M." last="Borg">M. Borg</name></author><author wicri:is="80%"><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A." last="Brice">A. Brice</name></author><author wicri:is="80%"><name sortKey="Broussolle, E" sort="Broussolle, E" uniqKey="Broussolle E" first="E." last="Broussolle">E. Broussolle</name></author><author wicri:is="80%"><name sortKey="Damier, Ph" sort="Damier, Ph" uniqKey="Damier P" first="Ph." last="Damier">Ph. Damier</name></author><author wicri:is="80%"><name sortKey="Deste, A" sort="Deste, A" uniqKey="Deste A" first="A." last="Deste">A. Deste</name></author><author wicri:is="80%"><name sortKey="Drr, A" sort="Drr, A" uniqKey="Drr A" first="A." last="Drr">A. Drr</name></author><author wicri:is="80%"><name sortKey="Durif, F" sort="Durif, F" uniqKey="Durif F" first="F." last="Durif">F. Durif</name></author><author wicri:is="80%"><name sortKey="Lohmann, E" sort="Lohmann, E" uniqKey="Lohmann E" first="E." last="Lohmann">E. Lohmann</name></author><author wicri:is="80%"><name sortKey="Martinez, M" sort="Martinez, M" uniqKey="Martinez M" first="M." last="Martinez">M. Martinez</name></author><author wicri:is="80%"><name sortKey="Penet, C" sort="Penet, C" uniqKey="Penet C" first="C." last="Penet">C. Penet</name></author><author wicri:is="80%"><name sortKey="Pollak, P" sort="Pollak, P" uniqKey="Pollak P" first="P." last="Pollak">P. Pollak</name></author><author wicri:is="80%"><name sortKey="Rascol, O" sort="Rascol, O" uniqKey="Rascol O" first="O." last="Rascol">O. Rascol</name></author><author wicri:is="80%"><name sortKey="Tison, F" sort="Tison, F" uniqKey="Tison F" first="F." last="Tison">F. Tison</name></author><author wicri:is="80%"><name sortKey="Tranchant, C" sort="Tranchant, C" uniqKey="Tranchant C" first="C." last="Tranchant">C. Tranchant</name></author><author wicri:is="80%"><name sortKey="Troiano, A" sort="Troiano, A" uniqKey="Troiano A" first="A." last="Troiano">A. Troiano</name></author><author wicri:is="80%"><name sortKey="Vrin, M" sort="Vrin, M" uniqKey="Vrin M" first="M." last="Vrin">M. Vrin</name></author><author wicri:is="80%"><name sortKey="Viallet, F" sort="Viallet, F" uniqKey="Viallet F" first="F." last="Viallet">F. Viallet</name></author><author wicri:is="80%"><name sortKey="Vidailhet, M" sort="Vidailhet, M" uniqKey="Vidailhet M" first="M." last="Vidailhet">M. Vidailhet</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:CE0CB88A3A306621CA16D7701243C098C3883248</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1093/hmg/ddq081</idno><idno type="url">https://api.istex.fr/document/CE0CB88A3A306621CA16D7701243C098C3883248/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">000399</idno><idno type="wicri:Area/Main/Curation">000345</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a">Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans</title><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><mods:affiliation>INSERM, UMRS975 (Formerly UMRS679), Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Patin, Etienne" sort="Patin, Etienne" uniqKey="Patin E" first="Etienne" last="Patin">Etienne Patin</name><affiliation><mods:affiliation>Institut Pasteur, Human Evolutionary Genetics, CNRS URA3012, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Condroyer, Christel" sort="Condroyer, Christel" uniqKey="Condroyer C" first="Christel" last="Condroyer">Christel Condroyer</name><affiliation><mods:affiliation>INSERM, UMRS975 (Formerly UMRS679), Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name><affiliation><mods:affiliation>INSERM, U946, Fondation Jean Dausset-CEPH, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Paris-Diderot University, Institut Universistaire d'Hmatologie, paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><affiliation><mods:affiliation>INSERM, UMRS975 (Formerly UMRS679), Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Giladi, Nir" sort="Giladi, Nir" uniqKey="Giladi N" first="Nir" last="Giladi">Nir Giladi</name><affiliation><mods:affiliation>Movement Disorders Unit Parkinson Center Department of Neurology and</mods:affiliation><wicri:noCountry code="no comma">Movement Disorders Unit Parkinson Center Department of Neurology and</wicri:noCountry></affiliation><affiliation><mods:affiliation>The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Bar Shira, Anat" sort="Bar Shira, Anat" uniqKey="Bar Shira A" first="Anat" last="Bar-Shira">Anat Bar-Shira</name><affiliation><mods:affiliation>Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Belarbi, Soraya" sort="Belarbi, Soraya" uniqKey="Belarbi S" first="Soraya" last="Belarbi">Soraya Belarbi</name><affiliation><mods:affiliation>Service de Neurologie, CHU Mustapha, Alger, Algeria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Hecham, Nassima" sort="Hecham, Nassima" uniqKey="Hecham N" first="Nassima" last="Hecham">Nassima Hecham</name><affiliation><mods:affiliation>Service de Neurologie, CHU Mustapha, Alger, Algeria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name><affiliation><mods:affiliation>Service de Neurologie, CHU de Grenoble, Grenoble, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Ouvrard Hernandez, Anne Marie" sort="Ouvrard Hernandez, Anne Marie" uniqKey="Ouvrard Hernandez A" first="Anne-Marie" last="Ouvrard-Hernandez">Anne-Marie Ouvrard-Hernandez</name><affiliation><mods:affiliation>Service de Neurologie, CHU de Grenoble, Grenoble, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Bardien, Soraya" sort="Bardien, Soraya" uniqKey="Bardien S" first="Soraya" last="Bardien">Soraya Bardien</name><affiliation><mods:affiliation>Division of Neurology, University of Stellenbosch, Cape Town, South Africa,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name><affiliation><mods:affiliation>Division of Neurology, University of Stellenbosch, Cape Town, South Africa,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Benhassine, Traki" sort="Benhassine, Traki" uniqKey="Benhassine T" first="Traki" last="Benhassine">Traki Benhassine</name><affiliation><mods:affiliation>Laboratoire de biologie molculaire, Universit de Bab Ezzouar, Alger, Algrie,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Pirkevi, Caroline" sort="Pirkevi, Caroline" uniqKey="Pirkevi C" first="Caroline" last="Pirkevi">Caroline Pirkevi</name><affiliation><mods:affiliation>Neurodegeneration Research Laboratory, Molecular Biology and Genetics Department, Boazii University, Istanbul, Turkey,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Hamadouche, Tarik" sort="Hamadouche, Tarik" uniqKey="Hamadouche T" first="Tarik" last="Hamadouche">Tarik Hamadouche</name><affiliation><mods:affiliation>Laboratoire de biologie molculaire, Universit M'hamed Bougara, Boumerdes, Algeria and</mods:affiliation><wicri:noCountry code="subField">Algeria and</wicri:noCountry></affiliation></author><author><name sortKey="Cazeneuve, Ccile" sort="Cazeneuve, Ccile" uniqKey="Cazeneuve C" first="Ccile" last="Cazeneuve">Ccile Cazeneuve</name><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Basak, A Nazli" sort="Basak, A Nazli" uniqKey="Basak A" first="A. Nazli" last="Basak">A. Nazli Basak</name><affiliation><mods:affiliation>Neurodegeneration Research Laboratory, Molecular Biology and Genetics Department, Boazii University, Istanbul, Turkey,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Drr, Alexandra" sort="Drr, Alexandra" uniqKey="Drr A" first="Alexandra" last="Drr">Alexandra Drr</name><affiliation><mods:affiliation>INSERM, UMRS975 (Formerly UMRS679), Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Tazir, Meriem" sort="Tazir, Meriem" uniqKey="Tazir M" first="Meriem" last="Tazir">Meriem Tazir</name><affiliation><mods:affiliation>Service de Neurologie, CHU Mustapha, Alger, Algeria,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Orr Urtreger, Avi" sort="Orr Urtreger, Avi" uniqKey="Orr Urtreger A" first="Avi" last="Orr-Urtreger">Avi Orr-Urtreger</name><affiliation><mods:affiliation>Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Quintana Murci, Lluis" sort="Quintana Murci, Lluis" uniqKey="Quintana Murci L" first="Lluis" last="Quintana-Murci">Lluis Quintana-Murci</name><affiliation><mods:affiliation>Institut Pasteur, Human Evolutionary Genetics, CNRS URA3012, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><mods:affiliation>INSERM, UMRS975 (Formerly UMRS679), Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation><mods:affiliation>Pierre et Marie Curie-Paris 6 University, UMRS975 CRicm, Piti-Salptrire, Paris, France,</mods:affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, AP-HP, Piti-Salptrire Hospital, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: alexis.brice@upmc.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation></author><author wicri:is="80%"><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y." last="Agid">Y. Agid</name></author><author wicri:is="80%"><name sortKey="Bonnet, A M" sort="Bonnet, A M" uniqKey="Bonnet A" first="A.-M." last="Bonnet">A.-M. Bonnet</name></author><author wicri:is="80%"><name sortKey="Borg, M" sort="Borg, M" uniqKey="Borg M" first="M." last="Borg">M. Borg</name></author><author wicri:is="80%"><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A." last="Brice">A. Brice</name></author><author wicri:is="80%"><name sortKey="Broussolle, E" sort="Broussolle, E" uniqKey="Broussolle E" first="E." last="Broussolle">E. Broussolle</name></author><author wicri:is="80%"><name sortKey="Damier, Ph" sort="Damier, Ph" uniqKey="Damier P" first="Ph." last="Damier">Ph. Damier</name></author><author wicri:is="80%"><name sortKey="Deste, A" sort="Deste, A" uniqKey="Deste A" first="A." last="Deste">A. Deste</name></author><author wicri:is="80%"><name sortKey="Drr, A" sort="Drr, A" uniqKey="Drr A" first="A." last="Drr">A. Drr</name></author><author wicri:is="80%"><name sortKey="Durif, F" sort="Durif, F" uniqKey="Durif F" first="F." last="Durif">F. Durif</name></author><author wicri:is="80%"><name sortKey="Lohmann, E" sort="Lohmann, E" uniqKey="Lohmann E" first="E." last="Lohmann">E. Lohmann</name></author><author wicri:is="80%"><name sortKey="Martinez, M" sort="Martinez, M" uniqKey="Martinez M" first="M." last="Martinez">M. Martinez</name></author><author wicri:is="80%"><name sortKey="Penet, C" sort="Penet, C" uniqKey="Penet C" first="C." last="Penet">C. Penet</name></author><author wicri:is="80%"><name sortKey="Pollak, P" sort="Pollak, P" uniqKey="Pollak P" first="P." last="Pollak">P. Pollak</name></author><author wicri:is="80%"><name sortKey="Rascol, O" sort="Rascol, O" uniqKey="Rascol O" first="O." last="Rascol">O. Rascol</name></author><author wicri:is="80%"><name sortKey="Tison, F" sort="Tison, F" uniqKey="Tison F" first="F." last="Tison">F. Tison</name></author><author wicri:is="80%"><name sortKey="Tranchant, C" sort="Tranchant, C" uniqKey="Tranchant C" first="C." last="Tranchant">C. Tranchant</name></author><author wicri:is="80%"><name sortKey="Troiano, A" sort="Troiano, A" uniqKey="Troiano A" first="A." last="Troiano">A. Troiano</name></author><author wicri:is="80%"><name sortKey="Vrin, M" sort="Vrin, M" uniqKey="Vrin M" first="M." last="Vrin">M. Vrin</name></author><author wicri:is="80%"><name sortKey="Viallet, F" sort="Viallet, F" uniqKey="Viallet F" first="F." last="Viallet">F. Viallet</name></author><author wicri:is="80%"><name sortKey="Vidailhet, M" sort="Vidailhet, M" uniqKey="Vidailhet M" first="M." last="Vidailhet">M. Vidailhet</name></author></analytic><monogr></monogr><series><title level="j">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="2010-05-15">2010-05-15</date><biblScope unit="volume">19</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1998">1998</biblScope><biblScope unit="page" to="2004">2004</biblScope></imprint><idno type="ISSN">0964-6906</idno></series><idno type="istex">CE0CB88A3A306621CA16D7701243C098C3883248</idno><idno type="DOI">10.1093/hmg/ddq081</idno><idno type="ArticleID">ddq081</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0964-6906</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Mutations in the leucine-rich-repeat kinase 2 (LRRK2) gene have been identified in families with autosomal dominant Parkinson's disease (PD) and in sporadic cases; the G2019S mutation is the single most frequent. Intriguingly, the frequency of this mutation in PD patients varies greatly among ethnic groups and geographic origins: it is present at <0.1 in East Asia, 2 in European-descent patients and can reach frequencies of up to 1540 in PD Ashkenazi Jews and North African Arabs. To ascertain the evolutionary dynamics of the G2019S mutation in different populations, we genotyped 74 markers spanning a 16 Mb genomic region around G2019S, in 191 individuals carrying the mutation from 126 families of different origins. Sixty-seven families were of North-African Arab origin, 18 were of North/Western European descent, 37 were of Jewish origin, mostly from Eastern Europe, one was from Japan, one from Turkey and two were of mixed origins. We found the G2019S mutation on three different haplotypes. Network analyses of the three carrier haplotypes showed that G2019S arose independently at least twice in humans. In addition, the population distribution of the intra-allelic diversity of the most widespread carrier haplotype, together with estimations of the age of G2019S determined by two different methods, suggests that one of the founding G2019S mutational events occurred in the Near East at least 4000 years ago.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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