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Article: Mutation origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala

TitleMutation origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala
Authors
Issue Date2012
PublisherAmerican Medical Association. The Journal's web site is located at http://www.archneurol.com
Citation
Archives of neurology, 2012, v. 69 n. 6, p. 746-751 How to Cite?
AbstractOBJECTIVE: 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.
Persistent Identifierhttp://hdl.handle.net/10722/152780
ISSN
2014 Impact Factor: 7.419
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorMartins, Sen_US
dc.contributor.authorSoong, BWen_US
dc.contributor.authorWong, VCNen_US
dc.contributor.authorGiunti, Pen_US
dc.contributor.authorStevanin, Gen_US
dc.contributor.authorRanum, LPWen_US
dc.contributor.authorSasaki, Hen_US
dc.contributor.authorRiess, Oen_US
dc.contributor.authorTsuji, Sen_US
dc.contributor.authorCountinho, Pen_US
dc.contributor.authorAmorim, A-
dc.contributor.authorSequeiros, J-
dc.contributor.authorNicholson, GA-
dc.date.accessioned2012-07-16T09:48:30Z-
dc.date.available2012-07-16T09:48:30Z-
dc.date.issued2012en_US
dc.identifier.citationArchives of neurology, 2012, v. 69 n. 6, p. 746-751en_US
dc.identifier.issn0003-9942-
dc.identifier.urihttp://hdl.handle.net/10722/152780-
dc.description.abstractOBJECTIVE: 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.-
dc.languageengen_US
dc.publisherAmerican Medical Association. The Journal's web site is located at http://www.archneurol.com-
dc.relation.ispartofArchives of neurologyen_US
dc.subject.meshGenetic Predisposition to Disease-
dc.subject.meshMachado-Joseph Disease - ethnology - genetics-
dc.subject.meshMutation - genetics-
dc.subject.meshNerve Tissue Proteins - genetics-
dc.subject.meshNuclear Proteins - genetics-
dc.titleMutation origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkalaen_US
dc.typeArticleen_US
dc.identifier.emailWong, VCN: vcnwong@hku.hken_US
dc.identifier.authorityWong, VCN=rp00334en_US
dc.identifier.doi10.1001/archneurol.2011.2504-
dc.identifier.pmid22351852-
dc.identifier.hkuros200479en_US
dc.identifier.volume69en_US
dc.identifier.issue6en_US
dc.identifier.spage746en_US
dc.identifier.epage751en_US
dc.identifier.eissn1538-3687-
dc.identifier.isiWOS:000305139900011-
dc.publisher.placeUnited States-

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