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Article: Asian origin for the worldwide-spread mutational event in Machado-Joseph disease

TitleAsian origin for the worldwide-spread mutational event in Machado-Joseph disease
Authors
Issue Date2007
PublisherAmerican Medical Association. The Journal's web site is located at http://www.archneurol.com
Citation
Archives Of Neurology, 2007, v. 64 n. 10, p. 1502-1508 How to Cite?
AbstractBackground: 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 post neolithic 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. ©2007 American Medical Association. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/143515
ISSN
2014 Impact Factor: 7.419
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorMartins, Sen_HK
dc.contributor.authorCalafell, Fen_HK
dc.contributor.authorGaspar, Cen_HK
dc.contributor.authorWong, VCNen_HK
dc.contributor.authorSilveira, Ien_HK
dc.contributor.authorNicholson, GAen_HK
dc.contributor.authorBrunt, ERen_HK
dc.contributor.authorTranebjaerg, Len_HK
dc.contributor.authorStevanin, Gen_HK
dc.contributor.authorHsieh, Men_HK
dc.contributor.authorSoong, BWen_HK
dc.contributor.authorLoureiro, Len_HK
dc.contributor.authorDürr, Aen_HK
dc.contributor.authorTsuji, Sen_HK
dc.contributor.authorWatanabe, Men_HK
dc.contributor.authorJardim, LBen_HK
dc.contributor.authorGiunti, Pen_HK
dc.contributor.authorRiess, Oen_HK
dc.contributor.authorRanum P, LPWen_HK
dc.contributor.authorBrice, Aen_HK
dc.contributor.authorRouleau, GAen_HK
dc.contributor.authorCoutinho, Pen_HK
dc.contributor.authorAmorim, Aen_HK
dc.contributor.authorSequeiros, Jen_HK
dc.date.accessioned2011-12-12T03:51:25Z-
dc.date.available2011-12-12T03:51:25Z-
dc.date.issued2007en_HK
dc.identifier.citationArchives Of Neurology, 2007, v. 64 n. 10, p. 1502-1508en_HK
dc.identifier.issn0003-9942en_HK
dc.identifier.urihttp://hdl.handle.net/10722/143515-
dc.description.abstractBackground: 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 post neolithic 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. ©2007 American Medical Association. All rights reserved.en_HK
dc.languageengen_US
dc.publisherAmerican Medical Association. The Journal's web site is located at http://www.archneurol.comen_HK
dc.relation.ispartofArchives of Neurologyen_HK
dc.subject.meshAsia/epidemiologyen_US
dc.subject.meshEmigration and Immigrationen_US
dc.subject.meshEurope/epidemiologyen_US
dc.subject.meshFounder Effecten_US
dc.subject.meshHaplotypesen_US
dc.subject.meshHumansen_US
dc.subject.meshJapan/epidemiologyen_US
dc.subject.meshMachado-Joseph Disease/*epidemiology/*geneticsen_US
dc.subject.meshMutation/*physiologyen_US
dc.subject.meshPolymorphism, Single Nucleotide/geneticsen_US
dc.subject.meshPopulationen_US
dc.subject.meshPortugal/epidemiologyen_US
dc.subject.meshTandem Repeat Sequences/geneticsen_US
dc.titleAsian origin for the worldwide-spread mutational event in Machado-Joseph diseaseen_HK
dc.typeArticleen_HK
dc.identifier.emailWong, VCN:vcnwong@hku.hken_HK
dc.identifier.authorityWong, VCN=rp00334en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1001/archneur.64.10.1502en_HK
dc.identifier.pmid17923634-
dc.identifier.scopuseid_2-s2.0-35348877394en_HK
dc.identifier.hkuros138416-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-35348877394&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume64en_HK
dc.identifier.issue10en_HK
dc.identifier.spage1502en_HK
dc.identifier.epage1508en_HK
dc.identifier.isiWOS:000249998400015-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridMartins, S=7007089353en_HK
dc.identifier.scopusauthoridCalafell, F=7005098244en_HK
dc.identifier.scopusauthoridGaspar, C=7005776417en_HK
dc.identifier.scopusauthoridWong, VCN=7202525632en_HK
dc.identifier.scopusauthoridSilveira, I=7003305109en_HK
dc.identifier.scopusauthoridNicholson, GA=7202311795en_HK
dc.identifier.scopusauthoridBrunt, ER=35407651200en_HK
dc.identifier.scopusauthoridTranebjaerg, L=35403999800en_HK
dc.identifier.scopusauthoridStevanin, G=7004216580en_HK
dc.identifier.scopusauthoridHsieh, M=7202490149en_HK
dc.identifier.scopusauthoridSoong, BW=7006364501en_HK
dc.identifier.scopusauthoridLoureiro, L=6603137722en_HK
dc.identifier.scopusauthoridDürr, A=24741153500en_HK
dc.identifier.scopusauthoridTsuji, S=35354877300en_HK
dc.identifier.scopusauthoridWatanabe, M=7405485294en_HK
dc.identifier.scopusauthoridJardim, LB=7003635829en_HK
dc.identifier.scopusauthoridGiunti, P=6603845190en_HK
dc.identifier.scopusauthoridRiess, O=7005559422en_HK
dc.identifier.scopusauthoridRanum P, LPW=22835974700en_HK
dc.identifier.scopusauthoridBrice, A=7102675554en_HK
dc.identifier.scopusauthoridRouleau, GA=36042364200en_HK
dc.identifier.scopusauthoridCoutinho, P=7006153343en_HK
dc.identifier.scopusauthoridAmorim, A=7006426820en_HK
dc.identifier.scopusauthoridSequeiros, J=7005499969en_HK

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