Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala
Identifieur interne : 005A63 ( Main/Exploration ); précédent : 005A62; suivant : 005A64Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala
Auteurs : Sandra Martins [Portugal] ; Bing-Wen Soong [Taïwan] ; Virginia C. N. Wong [Hong Kong] ; Paola Giunti [Royaume-Uni] ; Giovanni Stevanin [France] ; Laura P. W. Ranum [États-Unis] ; Hidenao Sasaki [Japon] ; Olaf Riess [Allemagne] ; Shoji Tsuji [Japon] ; Paula Coutinho [Portugal] ; Antonio Amorim [Portugal] ; Jorge Sequeiros [Portugal] ; Garth A. Nicholson [Australie]Source :
- Archives of neurology : (Chicago) [ 0003-9942 ] ; 2012.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Objective: To determine whether the presence of Machado-Joseph disease (MJD, also spinocerebellar ataxia type 3 [SCA3]) among Australian aborigines was caused by a new mutational event or by the introduction of expanded alleles from other populations. Design: We sequenced a region of 4 kilobases (kb), encompassing the CAG repeat within the ATXN3 gene, in 2 affected Australian aboriginal families and compared them with the Joseph and Machado lineages described before. Full-extended haplotypes (including also more distant single-nucleotide polymorphisms and flanking short tandem repeats) were assessed by segregation and allele-specific amplification. A phylogenetic tree was inferred from genetic distances, and age of the Australasian Joseph-derived lineage was estimated. Setting: The aboriginal communities of Groote Eylandt and Yirrkala, in the Northern Territories, Australia (local ethics institutional permission was granted, and both community and individual informed consent was obtained). Subjects: A convenience sample of 19 patients and unaffected relatives, from 2 Australian aboriginal families affected with MJD; 40 families with MJD of multiethnic origins and 50 unrelated Asian control subjects. Results: The 2 aboriginal families shared the same full haplotype, including 20 single-nucleotide polymorphisms: TTGATCGAGC-(CAG)Exp-CACCCAGCGC, that is, the Joseph lineage with a G variant in rs56268847. Among 33 families with the Joseph lineage, this derived haplotype was found only in 5 of 16 Taiwanese, all 3 Indian, and 1 of 3 Japanese families analyzed. Conclusion: A related-extended MJD haplotype shared by Australian aborigines and some Asian families (a Joseph-derived lineage) suggests a common ancestor for all, dating back more than 7000 years.
Affiliations:
- Allemagne, Australie, France, Hong Kong, Japon, Portugal, Royaume-Uni, Taïwan, États-Unis
- Angleterre, Bade-Wurtemberg, District de Tübingen, Grand Londres, Nouvelle-Galles du Sud, Région de Kantō, Île-de-France
- Londres, Paris, Sydney, Tokyo, Tübingen
- Université de Sydney, Université de Tokyo
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Ranum</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and Genetics Institute, College of Medicine, University of Florida</s1><s2>Gainesville</s2><s3>USA</s3><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Gainesville</wicri:noRegion></affiliation></author><author><name sortKey="Sasaki, Hidenao" sort="Sasaki, Hidenao" uniqKey="Sasaki H" first="Hidenao" last="Sasaki">Hidenao Sasaki</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neurology, Hokkaido University Graduate School of Medicine</s1><s2>Sapporo</s2><s3>JPN</s3><sZ>7 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Sapporo</wicri:noRegion></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="08"><s1>Department of Medical Genetics, University of Tubingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>8 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="Tsuji, Shoji" sort="Tsuji, Shoji" uniqKey="Tsuji S" first="Shoji" last="Tsuji">Shoji Tsuji</name><affiliation wicri:level="4"><inist:fA14 i1="09"><s1>Department of Neurology, University of Tokyo</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>9 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="Coutinho, Paula" sort="Coutinho, Paula" uniqKey="Coutinho P" first="Paula" last="Coutinho">Paula Coutinho</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Serviço Neurologia, Hospital S. Sebastiao</s1><s2>Feira</s2><s3>PRT</s3><sZ>10 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>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>Institute of Molecular Pathology and Immunology, University of Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Faculdade de Ciencias, University of Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>11 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Porto</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="12"><s1>Institute for Molecular and Cell Biology, University of Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>12 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Instituto de Ciencias Biomedicas Abel Salazar, University of Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>12 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="14"><s1>University of Sydney, Department of Medicine, Concord Hospital</s1><s3>AUS</s3><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>University of Sydney, Department of Medicine, Concord Hospital</wicri:noRegion><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">12-0298487</idno><date when="2012">2012</date><idno type="stanalyst">PASCAL 12-0298487 INIST</idno><idno type="RBID">Pascal:12-0298487</idno><idno type="wicri:Area/PascalFrancis/Corpus">001234</idno><idno type="wicri:Area/PascalFrancis/Curation">004C83</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000F26</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000F26</idno><idno type="wicri:doubleKey">0003-9942:2012:Martins S:mutational:origin:of</idno><idno type="wicri:Area/Main/Merge">005D61</idno><idno type="wicri:Area/Main/Curation">005A63</idno><idno type="wicri:Area/Main/Exploration">005A63</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala</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>Institute of Molecular Pathology and Immunology, University of Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Porto</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="02"><s1>Department of Neurology, National Yang-Ming University School of Medicine, Taipei Veterans General Hospital</s1><s2>Taipei</s2><s3>TWN</s3><sZ>2 aut.</sZ></inist:fA14><country>Taïwan</country><wicri:noRegion>Taipei</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="03"><s1>Department of Pediatrics and Adolescent Medicine, The University of Hong Kong</s1><s3>HKG</s3><sZ>3 aut.</sZ></inist:fA14><country>Hong Kong</country><wicri:noRegion>Department of Pediatrics and Adolescent Medicine, The University of Hong Kong</wicri:noRegion></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="04"><s1>Department of Molecular Neuroscience, University College of London Institute of Neurology, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>4 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="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Institut du Cerveau et de la Moelle Epiniere Hôpital Pitie-Salpetriere</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 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="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="06"><s1>Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and Genetics Institute, College of Medicine, University of Florida</s1><s2>Gainesville</s2><s3>USA</s3><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Gainesville</wicri:noRegion></affiliation></author><author><name sortKey="Sasaki, Hidenao" sort="Sasaki, Hidenao" uniqKey="Sasaki H" first="Hidenao" last="Sasaki">Hidenao Sasaki</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neurology, Hokkaido University Graduate School of Medicine</s1><s2>Sapporo</s2><s3>JPN</s3><sZ>7 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Sapporo</wicri:noRegion></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="08"><s1>Department of Medical Genetics, University of Tubingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>8 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="Tsuji, Shoji" sort="Tsuji, Shoji" uniqKey="Tsuji S" first="Shoji" last="Tsuji">Shoji Tsuji</name><affiliation wicri:level="4"><inist:fA14 i1="09"><s1>Department of Neurology, University of Tokyo</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>9 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="Coutinho, Paula" sort="Coutinho, Paula" uniqKey="Coutinho P" first="Paula" last="Coutinho">Paula Coutinho</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Serviço Neurologia, Hospital S. Sebastiao</s1><s2>Feira</s2><s3>PRT</s3><sZ>10 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>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>Institute of Molecular Pathology and Immunology, University of Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Faculdade de Ciencias, University of Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>11 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Porto</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="12"><s1>Institute for Molecular and Cell Biology, University of Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>12 aut.</sZ></inist:fA14><country>Portugal</country><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Instituto de Ciencias Biomedicas Abel Salazar, University of Porto</s1><s2>Porto</s2><s3>PRT</s3><sZ>12 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="14"><s1>University of Sydney, Department of Medicine, Concord Hospital</s1><s3>AUS</s3><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>University of Sydney, Department of Medicine, Concord Hospital</wicri:noRegion><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></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="2012">2012</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>Maladie de Joseph</term><term>Pathologie du système nerveux</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Objective: To determine whether the presence of Machado-Joseph disease (MJD, also spinocerebellar ataxia type 3 [SCA3]) among Australian aborigines was caused by a new mutational event or by the introduction of expanded alleles from other populations. Design: We sequenced a region of 4 kilobases (kb), encompassing the CAG repeat within the ATXN3 gene, in 2 affected Australian aboriginal families and compared them with the Joseph and Machado lineages described before. Full-extended haplotypes (including also more distant single-nucleotide polymorphisms and flanking short tandem repeats) were assessed by segregation and allele-specific amplification. A phylogenetic tree was inferred from genetic distances, and age of the Australasian Joseph-derived lineage was estimated. Setting: The aboriginal communities of Groote Eylandt and Yirrkala, in the Northern Territories, Australia (local ethics institutional permission was granted, and both community and individual informed consent was obtained). Subjects: A convenience sample of 19 patients and unaffected relatives, from 2 Australian aboriginal families affected with MJD; 40 families with MJD of multiethnic origins and 50 unrelated Asian control subjects. Results: The 2 aboriginal families shared the same full haplotype, including 20 single-nucleotide polymorphisms: TTGATCGAGC-(CAG)<sub>Exp</sub>-CACCCAGCGC, that is, the Joseph lineage with a G variant in rs56268847. Among 33 families with the Joseph lineage, this derived haplotype was found only in 5 of 16 Taiwanese, all 3 Indian, and 1 of 3 Japanese families analyzed. Conclusion: A related-extended MJD haplotype shared by Australian aborigines and some Asian families (a Joseph-derived lineage) suggests a common ancestor for all, dating back more than 7000 years.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>France</li><li>Hong Kong</li><li>Japon</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>District de Tübingen</li><li>Grand Londres</li><li>Nouvelle-Galles du Sud</li><li>Région de Kantō</li><li>Île-de-France</li></region><settlement><li>Londres</li><li>Paris</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="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="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></country><country name="Taïwan"><noRegion><name sortKey="Soong, Bing Wen" sort="Soong, Bing Wen" uniqKey="Soong B" first="Bing-Wen" last="Soong">Bing-Wen Soong</name></noRegion></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="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="France"><region name="Île-de-France"><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</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><country name="Japon"><noRegion><name sortKey="Sasaki, Hidenao" sort="Sasaki, Hidenao" uniqKey="Sasaki H" first="Hidenao" last="Sasaki">Hidenao Sasaki</name></noRegion><name sortKey="Tsuji, Shoji" sort="Tsuji, Shoji" uniqKey="Tsuji S" first="Shoji" last="Tsuji">Shoji Tsuji</name></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="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></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= Pascal:12-0298487
|texte= Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala
}}
| This area was generated with Dilib version V0.6.33. |  |