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

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Research Abstract Details 

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Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Abstract Text:

Sandra Martins,Francesc Calafell,Claudia Gaspar,Virginia C N Wong,Isabel Silveira,Garth A Nicholson,Ewout R Brunt,Lisbeth Tranebjaerg,Giovanni Stevanin,Mingli Hsieh,Bing-Wen Soong,Leal Loureiro,Alexandra ,Shoji Tsuji,Mitsunori Watanabe,Laura B Jardim,Paola Giunti,Olaf Riess,Laura P W Ranum,Alexis Brice,Guy A Rouleau,Paula Coutinho, Amorim,Jorge Sequeiros,Sandra Martins,Francesc Calafell,Claudia Gaspar,Virginia C N Wong,Isabel Silveira,Garth A Nicholson,Ewout R Brunt,Lisbeth Tranebjaerg,Giovanni Stevanin,Mingli Hsieh,Bing-Wen Soong,Leal Loureiro,Alexandra ,Shoji Tsuji,Mitsunori Watanabe,Laura B Jardim,Paola Giunti,Olaf Riess,Laura P W Ranum,Alexis Brice,Guy A Rouleau,Paula Coutinho, Amorim,Jorge Sequeiros,

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.

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Publishing Authors By Initials

S Martins,F Calafell,C Gaspar,VC Wong,I Silveira,GA Nicholson,ER Brunt,L Tranebjaerg,G Stevanin,M Hsieh,BW Soong,L Loureiro,A ,S Tsuji,M Watanabe,LB Jardim,P Giunti,O Riess,LP Ranum,A Brice,GA Rouleau,P Coutinho,A Amorim,J Sequeiros,S Martins,F Calafell,C Gaspar,VC Wong,I Silveira,GA Nicholson,ER Brunt,L Tranebjaerg,G Stevanin,M Hsieh,BW Soong,L Loureiro,A ,S Tsuji,M Watanabe,LB Jardim,P Giunti,O Riess,LP Ranum,A Brice,GA Rouleau,P Coutinho,A Amorim,J Sequeiros,

For similar biochemical phenomena, metabolism, and nutrition: biochemical phenomena: molecular structure: base sequence: repetitive sequences, nucleic acid: tandem repeat sequences research abstracts see: biochemical phenomena, metabolism, and nutrition: biochemical phenomena: molecular structure: base sequence: repetitive sequences, nucleic acid: tandem repeat sequences research

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Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Archives of neurology

VOLUME: 64

Page Numbers: 1502-8

Journal Abbreviation: Arch. Neurol.

ISSN: 0003-9942

DAY: 20

MONTH: Oct

YEAR: 2007

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Information

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LANGUAGE: eng

NlmUniqueID: 372436

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Keywords Mesh Terms:

KEYWORDS: Tandem Repeat Sequences

MESH TERMS: genetics

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Grant and Affiliation Information for Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.

AFFILIATION: Instituto de Patologia e Imunologia Molecular da Universidade do Porto and Faculdade de Ciências, University of Porto, Porto, Portugal.

Country: United States

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MEDLINETA: Arch Neurol

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