Asian origin for the worldwide-spread mutational event in machado-joseph disease
Identifieur interne : 009717 ( Main/Exploration ); précédent : 009716; suivant : 009718Asian origin for the worldwide-spread mutational event in machado-joseph disease
Auteurs : Sandra Martins [Portugal] ; Francesc Calafell [Espagne] ; Claudia Gaspar [Canada] ; Virginia C. N. Wong [Hong Kong] ; Isabel Silveira [Portugal] ; Garth A. Nicholson [Australie] ; Ewout R. Brunt [Pays-Bas] ; Lisbeth Tranebjaerg [Danemark, Norvège] ; Giovanni Stevanin [France] ; Mingli Hsieh [Taïwan] ; Bing-Wen Soong [Taïwan] ; Leal Loureiro [Portugal] ; Alexandra Dürr [France] ; Shoji Tsuji [Japon] ; Mitsunori Watanabe [Japon] ; Laura B. Jardim [Brésil] ; Paola Giunti [Royaume-Uni] ; Olaf Riess [Allemagne] ; Laura P. W. Ranum [États-Unis] ; Alexis Brice [France] ; Guy A. Rouleau [Canada] ; Paula Coutinho [Portugal] ; Antonio Amorim [Portugal] ; Jorge Sequeiros [Portugal]Source :
- Archives of neurology : (Chicago) [ 0003-9942 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Background: Machado-Joseph disease is the most frequent dominant ataxia worldwide. Despite its frequency and presence in many populations, only 2 founder mutations have been suggested to explain its current geographic distribution. Objectives: To trace back in history the main mutational events in Machado-Joseph disease, we aimed to assess ancestral haplotypes and population backgrounds, to date the mutations, and to trace the routes and time of introduction of the founder haplotypes in different populations. Design, Setting, and Participants: We studied 264 families with Machado-Joseph disease from 20 different populations. Six intragenic single-nucleotide polymorphisms were used to determine ancestral mutational events; 4 flanking short tandem repeats were used to construct extended haplotypes and measure accumulation of genetic diversity over time within each lineage. Results: The worldwide-spread lineage, TTACAC, had its highest diversity in the Japanese population, where we identified the ancestral short tandem repeat-based haplotype. Accumulated variability suggested a postneolithic mutation, about 5774 ± 1116 years old, with more recent introductions in North America, Germany, France, Portugal, and Brazil. As to the second mutational event, in the GTGGCA lineage, only 7 families (of 71 families) did not have Portuguese ancestry, although gene diversity was again smaller in Portuguese families (0.44) than in non-Portuguese families (0.93). Conclusions: The worldwide-spread mutation may have first occurred in Asia and later been diffused throughout Europe, with a founder effect accounting for its high prevalence in Portugal; the other Machado-Joseph disease lineage is more recent, about 1416±434 years old, and its dispersion may be explained mainly by recent Portuguese emigration.
Affiliations:
- Allemagne, Australie, Brésil, Canada, Danemark, Espagne, France, Hong Kong, Japon, Norvège, Pays-Bas, Portugal, Royaume-Uni, Taïwan, États-Unis
- Angleterre, Bade-Wurtemberg, Catalogne, District de Tübingen, Grand Londres, Groningue (province), Hovedstaden, Nouvelle-Galles du Sud, Rio Grande do Sul, Région de Kantō, Île-de-France
- Barcelone, Copenhague, Groningue, Londres, Paris, Porto Alegre, Sydney, Tokyo, Tübingen
- Université de Sydney, Université de Tokyo
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N." last="Wong">Virginia C. N. 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Brunt</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>University Médical Cen tre Groningen, University of Groningen</s1><s2>Groningen</s2><s3>NLD</s3><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region></placeName></affiliation></author><author><name sortKey="Tranebjaerg, Lisbeth" sort="Tranebjaerg, Lisbeth" uniqKey="Tranebjaerg L" first="Lisbeth" last="Tranebjaerg">Lisbeth Tranebjaerg</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department ofAudiology, Bispeb jerg Hospital</s1><s2>Copenhagen</s2><s3>DNK</s3><sZ>8 aut.</sZ></inist:fA14><country>Danemark</country><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>De partment of Médical Genetics, University Hospital of North em Norway</s1><s2>Tromsø</s2><s3>NOR</s3><sZ>8 aut.</sZ></inist:fA14><country>Norvège</country><wicri:noRegion>Tromsø</wicri:noRegion></affiliation></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Institut National de la Santé et de la Recherche Médicale Unit 679, Federative Institute for Neuroscience Research, Pitié-Salpêtrière Group</s1><s2>Paris</s2><s3>FRA</s3><sZ>9 aut.</sZ><sZ>13 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Hsieh, Mingli" sort="Hsieh, Mingli" uniqKey="Hsieh M" first="Mingli" last="Hsieh">Mingli Hsieh</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Life Science, Tunghai University</s1><s2>Taichung</s2><s3>TWN</s3><sZ>10 aut.</sZ></inist:fA14><country>Taïwan</country><wicri:noRegion>Taichung</wicri:noRegion></affiliation></author><author><name sortKey="Soong, Bing Wen" sort="Soong, Bing Wen" uniqKey="Soong B" first="Bing-Wen" last="Soong">Bing-Wen Soong</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Neurological Institute, Vet erans General Hospital</s1><s2>Taipei</s2><s3>TWN</s3><sZ>11 aut.</sZ></inist:fA14><country>Taïwan</country><wicri:noRegion>Taipei</wicri:noRegion></affiliation></author><author><name sortKey="Loureiro, Leal" sort="Loureiro, Leal" uniqKey="Loureiro L" first="Leal" last="Loureiro">Leal Loureiro</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Instituto de Biologia Molecular e Celular, University of Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Institut National de la Santé et de la Recherche Médicale Unit 679, Federative Institute for Neuroscience Research, Pitié-Salpêtrière Group</s1><s2>Paris</s2><s3>FRA</s3><sZ>9 aut.</sZ><sZ>13 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Tsuji, Shoji" sort="Tsuji, Shoji" uniqKey="Tsuji S" first="Shoji" last="Tsuji">Shoji Tsuji</name><affiliation wicri:level="4"><inist:fA14 i1="13"><s1>Depart ment of Neurology, University of Tokyo</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>14 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region><settlement type="city">Tokyo</settlement></placeName><orgName type="university">Université de Tokyo</orgName></affiliation></author><author><name sortKey="Watanabe, Mitsunori" sort="Watanabe, Mitsunori" uniqKey="Watanabe M" first="Mitsunori" last="Watanabe">Mitsunori Watanabe</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Department of Neurology, Gunma University School of Medicine</s1><s2>Gunma</s2><s3>JPN</s3><sZ>15 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Gunma</wicri:noRegion></affiliation></author><author><name sortKey="Jardim, Laura B" sort="Jardim, Laura B" uniqKey="Jardim L" first="Laura B." last="Jardim">Laura B. Jardim</name><affiliation wicri:level="3"><inist:fA14 i1="15"><s1>Servico de Genética Médica, Hospital Clínicas</s1><s2>Porto Alegre</s2><s3>BRA</s3><sZ>16 aut.</sZ></inist:fA14><country>Brésil</country><placeName><settlement type="city">Porto Alegre</settlement><region type="state">Rio Grande do Sul</region></placeName></affiliation></author><author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name><affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Department of Molecular Neuroscience, In stitute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>17 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><affiliation wicri:level="3"><inist:fA14 i1="17"><s1>Department of Medical Genetics, University of Tübingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Ranum, Laura P W" sort="Ranum, Laura P W" uniqKey="Ranum L" first="Laura P. W." last="Ranum">Laura P. W. Ranum</name><affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Department of Genetics, Cell Biology, and Development and Institute of Human Genetics, University of Minnesota</s1><s2>Minneapolis</s2><s3>USA</s3><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Minneapolis</wicri:noRegion></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Institut National de la Santé et de la Recherche Médicale Unit 679, Federative Institute for Neuroscience Research, Pitié-Salpêtrière Group</s1><s2>Paris</s2><s3>FRA</s3><sZ>9 aut.</sZ><sZ>13 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Centre Hospitalier de l'Université de Mon tréal, Hôpital Notre Dame</s1><s2>Montreal, Quebec</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Montreal, Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Coutinho, Paula" sort="Coutinho, Paula" uniqKey="Coutinho P" first="Paula" last="Coutinho">Paula Coutinho</name><affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Servico de Neurologia, Hospital São Sebastiao</s1><s2>Santa Maria da Feira</s2><s3>PRT</s3><sZ>22 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Santa Maria da Feira</wicri:noRegion></affiliation></author><author><name sortKey="Amorim, Antonio" sort="Amorim, Antonio" uniqKey="Amorim A" first="Antonio" last="Amorim">Antonio Amorim</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Instituto de Patologia e Imunologia Molecular da Universidade do Porto and Faculdade de Ciências</s1><s3>PRT</s3><sZ>1 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Instituto de Patologia e Imunologia Molecular da Universidade do Porto and Faculdade de Ciências</wicri:noRegion></affiliation></author><author><name sortKey="Sequeiros, Jorge" sort="Sequeiros, Jorge" uniqKey="Sequeiros J" first="Jorge" last="Sequeiros">Jorge Sequeiros</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Instituto de Biologia Molecular e Celular, University of Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="20"><s1>Instituto de Ciências Biomédicas Abel Salazar, University of Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>24 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Porto</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">07-0509364</idno><date when="2007">2007</date><idno type="stanalyst">PASCAL 07-0509364 INIST</idno><idno type="RBID">Pascal:07-0509364</idno><idno type="wicri:Area/PascalFrancis/Corpus">003903</idno><idno type="wicri:Area/PascalFrancis/Curation">002785</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">003A50</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">003A50</idno><idno type="wicri:doubleKey">0003-9942:2007:Martins S:asian:origin:for</idno><idno type="wicri:Area/Main/Merge">00A162</idno><idno type="wicri:Area/Main/Curation">009717</idno><idno type="wicri:Area/Main/Exploration">009717</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Asian origin for the worldwide-spread mutational event in machado-joseph disease</title><author><name sortKey="Martins, Sandra" sort="Martins, Sandra" uniqKey="Martins S" first="Sandra" last="Martins">Sandra Martins</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Instituto de Patologia e Imunologia Molecular da Universidade do Porto and Faculdade de Ciências</s1><s3>PRT</s3><sZ>1 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Instituto de Patologia e Imunologia Molecular da Universidade do Porto and Faculdade de Ciências</wicri:noRegion></affiliation></author><author><name sortKey="Calafell, Francesc" sort="Calafell, Francesc" uniqKey="Calafell F" first="Francesc" last="Calafell">Francesc Calafell</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Unitat Biologia Evolutiva, Departament de Ciències Experimentals i de la Salut, University of Pompeu Fabra</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>2 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Gaspar, Claudia" sort="Gaspar, Claudia" uniqKey="Gaspar C" first="Claudia" last="Gaspar">Claudia Gaspar</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Centre Hospitalier de l'Université de Mon tréal, Hôpital Notre Dame</s1><s2>Montreal, Quebec</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Montreal, Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Wong, Virginia C N" sort="Wong, Virginia C N" uniqKey="Wong V" first="Virginia C. N." last="Wong">Virginia C. N. Wong</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Division of Child Neurology, Developmental Paediatrics, and Neurohabilitation, Depart ment of Paediatrics and Adolescent Medicine, The Univer sity of Hong Kong</s1><s3>HKG</s3><sZ>4 aut.</sZ></inist:fA14><country>Hong Kong</country><wicri:noRegion>Division of Child Neurology, Developmental Paediatrics, and Neurohabilitation, Depart ment of Paediatrics and Adolescent Medicine, The Univer sity of Hong Kong</wicri:noRegion></affiliation></author><author><name sortKey="Silveira, Isabel" sort="Silveira, Isabel" uniqKey="Silveira I" first="Isabel" last="Silveira">Isabel Silveira</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Instituto de Biologia Molecular e Celular, University of Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Nicholson, Garth A" sort="Nicholson, Garth A" uniqKey="Nicholson G" first="Garth A." last="Nicholson">Garth A. Nicholson</name><affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Depart ment of Medicine, Concord Hospital, University of Sydney</s1><s2>Sydney</s2><s3>AUS</s3><sZ>6 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region><settlement type="city">Sydney</settlement></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Brunt, Ewout R" sort="Brunt, Ewout R" uniqKey="Brunt E" first="Ewout R." last="Brunt">Ewout R. Brunt</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>University Médical Cen tre Groningen, University of Groningen</s1><s2>Groningen</s2><s3>NLD</s3><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region></placeName></affiliation></author><author><name sortKey="Tranebjaerg, Lisbeth" sort="Tranebjaerg, Lisbeth" uniqKey="Tranebjaerg L" first="Lisbeth" last="Tranebjaerg">Lisbeth Tranebjaerg</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department ofAudiology, Bispeb jerg Hospital</s1><s2>Copenhagen</s2><s3>DNK</s3><sZ>8 aut.</sZ></inist:fA14><country>Danemark</country><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>De partment of Médical Genetics, University Hospital of North em Norway</s1><s2>Tromsø</s2><s3>NOR</s3><sZ>8 aut.</sZ></inist:fA14><country>Norvège</country><wicri:noRegion>Tromsø</wicri:noRegion></affiliation></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Institut National de la Santé et de la Recherche Médicale Unit 679, Federative Institute for Neuroscience Research, Pitié-Salpêtrière Group</s1><s2>Paris</s2><s3>FRA</s3><sZ>9 aut.</sZ><sZ>13 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Hsieh, Mingli" sort="Hsieh, Mingli" uniqKey="Hsieh M" first="Mingli" last="Hsieh">Mingli Hsieh</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Life Science, Tunghai University</s1><s2>Taichung</s2><s3>TWN</s3><sZ>10 aut.</sZ></inist:fA14><country>Taïwan</country><wicri:noRegion>Taichung</wicri:noRegion></affiliation></author><author><name sortKey="Soong, Bing Wen" sort="Soong, Bing Wen" uniqKey="Soong B" first="Bing-Wen" last="Soong">Bing-Wen Soong</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Neurological Institute, Vet erans General Hospital</s1><s2>Taipei</s2><s3>TWN</s3><sZ>11 aut.</sZ></inist:fA14><country>Taïwan</country><wicri:noRegion>Taipei</wicri:noRegion></affiliation></author><author><name sortKey="Loureiro, Leal" sort="Loureiro, Leal" uniqKey="Loureiro L" first="Leal" last="Loureiro">Leal Loureiro</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Instituto de Biologia Molecular e Celular, University of Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Institut National de la Santé et de la Recherche Médicale Unit 679, Federative Institute for Neuroscience Research, Pitié-Salpêtrière Group</s1><s2>Paris</s2><s3>FRA</s3><sZ>9 aut.</sZ><sZ>13 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Tsuji, Shoji" sort="Tsuji, Shoji" uniqKey="Tsuji S" first="Shoji" last="Tsuji">Shoji Tsuji</name><affiliation wicri:level="4"><inist:fA14 i1="13"><s1>Depart ment of Neurology, University of Tokyo</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>14 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region><settlement type="city">Tokyo</settlement></placeName><orgName type="university">Université de Tokyo</orgName></affiliation></author><author><name sortKey="Watanabe, Mitsunori" sort="Watanabe, Mitsunori" uniqKey="Watanabe M" first="Mitsunori" last="Watanabe">Mitsunori Watanabe</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Department of Neurology, Gunma University School of Medicine</s1><s2>Gunma</s2><s3>JPN</s3><sZ>15 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Gunma</wicri:noRegion></affiliation></author><author><name sortKey="Jardim, Laura B" sort="Jardim, Laura B" uniqKey="Jardim L" first="Laura B." last="Jardim">Laura B. Jardim</name><affiliation wicri:level="3"><inist:fA14 i1="15"><s1>Servico de Genética Médica, Hospital Clínicas</s1><s2>Porto Alegre</s2><s3>BRA</s3><sZ>16 aut.</sZ></inist:fA14><country>Brésil</country><placeName><settlement type="city">Porto Alegre</settlement><region type="state">Rio Grande do Sul</region></placeName></affiliation></author><author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name><affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Department of Molecular Neuroscience, In stitute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>17 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><affiliation wicri:level="3"><inist:fA14 i1="17"><s1>Department of Medical Genetics, University of Tübingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Ranum, Laura P W" sort="Ranum, Laura P W" uniqKey="Ranum L" first="Laura P. W." last="Ranum">Laura P. W. Ranum</name><affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Department of Genetics, Cell Biology, and Development and Institute of Human Genetics, University of Minnesota</s1><s2>Minneapolis</s2><s3>USA</s3><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Minneapolis</wicri:noRegion></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Institut National de la Santé et de la Recherche Médicale Unit 679, Federative Institute for Neuroscience Research, Pitié-Salpêtrière Group</s1><s2>Paris</s2><s3>FRA</s3><sZ>9 aut.</sZ><sZ>13 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Centre Hospitalier de l'Université de Mon tréal, Hôpital Notre Dame</s1><s2>Montreal, Quebec</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Montreal, Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Coutinho, Paula" sort="Coutinho, Paula" uniqKey="Coutinho P" first="Paula" last="Coutinho">Paula Coutinho</name><affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Servico de Neurologia, Hospital São Sebastiao</s1><s2>Santa Maria da Feira</s2><s3>PRT</s3><sZ>22 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Santa Maria da Feira</wicri:noRegion></affiliation></author><author><name sortKey="Amorim, Antonio" sort="Amorim, Antonio" uniqKey="Amorim A" first="Antonio" last="Amorim">Antonio Amorim</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Instituto de Patologia e Imunologia Molecular da Universidade do Porto and Faculdade de Ciências</s1><s3>PRT</s3><sZ>1 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Instituto de Patologia e Imunologia Molecular da Universidade do Porto and Faculdade de Ciências</wicri:noRegion></affiliation></author><author><name sortKey="Sequeiros, Jorge" sort="Sequeiros, Jorge" uniqKey="Sequeiros J" first="Jorge" last="Sequeiros">Jorge Sequeiros</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Instituto de Biologia Molecular e Celular, University of Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="20"><s1>Instituto de Ciências Biomédicas Abel Salazar, University of Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>24 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Porto</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Archives of neurology : (Chicago)</title><title level="j" type="abbreviated">Arch. neurol. : (Chic.)</title><idno type="ISSN">0003-9942</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Archives of neurology : (Chicago)</title><title level="j" type="abbreviated">Arch. neurol. : (Chic.)</title><idno type="ISSN">0003-9942</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Joseph disease</term><term>Nervous system diseases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Joseph maladie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Machado-Joseph disease is the most frequent dominant ataxia worldwide. Despite its frequency and presence in many populations, only 2 founder mutations have been suggested to explain its current geographic distribution. Objectives: To trace back in history the main mutational events in Machado-Joseph disease, we aimed to assess ancestral haplotypes and population backgrounds, to date the mutations, and to trace the routes and time of introduction of the founder haplotypes in different populations. Design, Setting, and Participants: We studied 264 families with Machado-Joseph disease from 20 different populations. Six intragenic single-nucleotide polymorphisms were used to determine ancestral mutational events; 4 flanking short tandem repeats were used to construct extended haplotypes and measure accumulation of genetic diversity over time within each lineage. Results: The worldwide-spread lineage, TTACAC, had its highest diversity in the Japanese population, where we identified the ancestral short tandem repeat-based haplotype. Accumulated variability suggested a postneolithic mutation, about 5774 ± 1116 years old, with more recent introductions in North America, Germany, France, Portugal, and Brazil. As to the second mutational event, in the GTGGCA lineage, only 7 families (of 71 families) did not have Portuguese ancestry, although gene diversity was again smaller in Portuguese families (0.44) than in non-Portuguese families (0.93). Conclusions: The worldwide-spread mutation may have first occurred in Asia and later been diffused throughout Europe, with a founder effect accounting for its high prevalence in Portugal; the other Machado-Joseph disease lineage is more recent, about 1416±434 years old, and its dispersion may be explained mainly by recent Portuguese emigration.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Brésil</li><li>Canada</li><li>Danemark</li><li>Espagne</li><li>France</li><li>Hong Kong</li><li>Japon</li><li>Norvège</li><li>Pays-Bas</li><li>Portugal</li><li>Royaume-Uni</li><li>Taïwan</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Bade-Wurtemberg</li><li>Catalogne</li><li>District de Tübingen</li><li>Grand Londres</li><li>Groningue (province)</li><li>Hovedstaden</li><li>Nouvelle-Galles du Sud</li><li>Rio Grande do Sul</li><li>Région de Kantō</li><li>Île-de-France</li></region><settlement><li>Barcelone</li><li>Copenhague</li><li>Groningue</li><li>Londres</li><li>Paris</li><li>Porto Alegre</li><li>Sydney</li><li>Tokyo</li><li>Tübingen</li></settlement><orgName><li>Université de Sydney</li><li>Université de Tokyo</li></orgName></list><tree><country name="Portugal"><noRegion><name sortKey="Martins, Sandra" sort="Martins, Sandra" uniqKey="Martins S" first="Sandra" last="Martins">Sandra Martins</name></noRegion><name sortKey="Amorim, Antonio" sort="Amorim, Antonio" uniqKey="Amorim A" first="Antonio" last="Amorim">Antonio Amorim</name><name sortKey="Coutinho, Paula" sort="Coutinho, Paula" uniqKey="Coutinho P" first="Paula" last="Coutinho">Paula Coutinho</name><name sortKey="Loureiro, Leal" sort="Loureiro, Leal" uniqKey="Loureiro L" first="Leal" last="Loureiro">Leal Loureiro</name><name sortKey="Sequeiros, Jorge" sort="Sequeiros, Jorge" uniqKey="Sequeiros J" first="Jorge" last="Sequeiros">Jorge Sequeiros</name><name sortKey="Sequeiros, Jorge" sort="Sequeiros, Jorge" uniqKey="Sequeiros J" first="Jorge" last="Sequeiros">Jorge Sequeiros</name><name sortKey="Silveira, Isabel" sort="Silveira, Isabel" uniqKey="Silveira I" first="Isabel" last="Silveira">Isabel Silveira</name></country><country name="Espagne"><region name="Catalogne"><name sortKey="Calafell, Francesc" sort="Calafell, Francesc" uniqKey="Calafell F" first="Francesc" last="Calafell">Francesc Calafell</name></region></country><country name="Canada"><noRegion><name sortKey="Gaspar, Claudia" sort="Gaspar, Claudia" uniqKey="Gaspar C" first="Claudia" last="Gaspar">Claudia Gaspar</name></noRegion><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name></country><country name="Hong Kong"><noRegion><name sortKey="Wong, Virginia C N" sort="Wong, Virginia C N" uniqKey="Wong V" first="Virginia C. N." last="Wong">Virginia C. N. Wong</name></noRegion></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Nicholson, Garth A" sort="Nicholson, Garth A" uniqKey="Nicholson G" first="Garth A." last="Nicholson">Garth A. Nicholson</name></region></country><country name="Pays-Bas"><region name="Groningue (province)"><name sortKey="Brunt, Ewout R" sort="Brunt, Ewout R" uniqKey="Brunt E" first="Ewout R." last="Brunt">Ewout R. Brunt</name></region></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="Tranebjaerg, Lisbeth" sort="Tranebjaerg, Lisbeth" uniqKey="Tranebjaerg L" first="Lisbeth" last="Tranebjaerg">Lisbeth Tranebjaerg</name></region></country><country name="Norvège"><noRegion><name sortKey="Tranebjaerg, Lisbeth" sort="Tranebjaerg, Lisbeth" uniqKey="Tranebjaerg L" first="Lisbeth" last="Tranebjaerg">Lisbeth Tranebjaerg</name></noRegion></country><country name="France"><region name="Île-de-France"><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name></region><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></country><country name="Taïwan"><noRegion><name sortKey="Hsieh, Mingli" sort="Hsieh, Mingli" uniqKey="Hsieh M" first="Mingli" last="Hsieh">Mingli Hsieh</name></noRegion><name sortKey="Soong, Bing Wen" sort="Soong, Bing Wen" uniqKey="Soong B" first="Bing-Wen" last="Soong">Bing-Wen Soong</name></country><country name="Japon"><region name="Région de Kantō"><name sortKey="Tsuji, Shoji" sort="Tsuji, Shoji" uniqKey="Tsuji S" first="Shoji" last="Tsuji">Shoji Tsuji</name></region><name sortKey="Watanabe, Mitsunori" sort="Watanabe, Mitsunori" uniqKey="Watanabe M" first="Mitsunori" last="Watanabe">Mitsunori Watanabe</name></country><country name="Brésil"><region name="Rio Grande do Sul"><name sortKey="Jardim, Laura B" sort="Jardim, Laura B" uniqKey="Jardim L" first="Laura B." last="Jardim">Laura B. Jardim</name></region></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name></region></country><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name></region></country><country name="États-Unis"><noRegion><name sortKey="Ranum, Laura P W" sort="Ranum, Laura P W" uniqKey="Ranum L" first="Laura P. W." last="Ranum">Laura P. W. Ranum</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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