Positive Selection of a Pre-Expansion CAG Repeat of the Human SCA2 Gene

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Positive Selection of a Pre-Expansion CAG Repeat of the Human SCA2 Gene

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dc.contributor.author Yu, Fuli
dc.contributor.author Hardenbol, Paul
dc.contributor.author Fu, Qing
dc.contributor.author Fry, Ben
dc.contributor.author Lu, Xiuhua
dc.contributor.author Ghose, Sy
dc.contributor.author Vega, Richard
dc.contributor.author Perez, Ag
dc.contributor.author Pasternak, Shiran
dc.contributor.author Leal, Suzanne M.
dc.contributor.author Willis, Thomas D.
dc.contributor.author Belmont, John
dc.contributor.author Gibbs, Richard A.
dc.contributor.author Sabeti, Pardis Christine
dc.contributor.author Nelson, David L.
dc.date.accessioned 2010-10-25T14:54:46Z
dc.date.issued 2005
dc.identifier.citation Yu, Fuli, Pardis Christine Sabeti, Paul Hardenbol, Qing Fu, Ben Fry, Xiuhua Lu, Sy Ghose, et al. 2005. Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genetics 1(3): e41. en_US
dc.identifier.issn 1553-7390 en_US
dc.identifier.uri http://nrs.harvard.edu/urn-3:HUL.InstRepos:4506285
dc.description.abstract A region of approximately one megabase of human Chromosome 12 shows extensive linkage disequilibrium in Utah residents with ancestry from northern and western Europe. This strikingly large linkage disequilibrium block was analyzed with statistical and experimental methods to determine whether natural selection could be implicated in shaping the current genome structure. Extended Haplotype Homozygosity and Relative Extended Haplotype Homozygosity analyses on this region mapped a core region of the strongest conserved haplotype to the exon 1 of the Spinocerebellar ataxia type 2 gene (SCA2). Direct DNA sequencing of this region of the SCA2 gene revealed a significant association between a pre-expanded allele \([(CAG)_8CAA(CAG)_4CAA(CAG)_8]\) of CAG repeats within exon 1 and the selected haplotype of the SCA2 gene. A significantly negative Tajima's D value (−2.20, p < 0.01) on this site consistently suggested selection on the CAG repeat. This region was also investigated in the three other populations, none of which showed signs of selection. These results suggest that a recent positive selection of the pre-expansion SCA2 CAG repeat has occurred in Utah residents with European ancestry. en_US
dc.description.sponsorship Organismic and Evolutionary Biology en_US
dc.language.iso en_US en_US
dc.publisher Public Library of Science en_US
dc.relation.isversionof doi:10.1371/journal.pgen.0010041 en_US
dc.relation.hasversion http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1239938/ en_US
dash.license LAA
dc.title Positive Selection of a Pre-Expansion CAG Repeat of the Human SCA2 Gene en_US
dc.type Journal Article en_US
dc.description.version Version of Record en_US
dc.relation.journal PLoS Genetics en_US
dash.depositing.author Sabeti, Pardis Christine
dc.date.available 2010-10-25T14:54:46Z

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  • FAS Scholarly Articles [7588]
    Peer reviewed scholarly articles from the Faculty of Arts and Sciences of Harvard University

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