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  1. 010 学術雑誌論文
  2. 颯田, 葉子 / SATTA, Yoko
  1. 010 学術雑誌論文
  2. 高畑, 尚之 / TAKAHATA, Naoyuki

Fixation of the human-specific CMP-N-acetylneuraminic acid hydroxylase pseudogene and implications of haplotype diversity for human evolution

https://ir.soken.ac.jp/records/3701
https://ir.soken.ac.jp/records/3701
e0d76ea9-0367-4a39-93c3-c4d7f979db49
Item type 学術雑誌論文 / Journal Article(1)
公開日 2013-07-03
タイトル
タイトル Fixation of the human-specific CMP-N-acetylneuraminic acid hydroxylase pseudogene and implications of haplotype diversity for human evolution
タイトル
タイトル Fixation of the human-specific CMP-N-acetylneuraminic acid hydroxylase pseudogene and implications of haplotype diversity for human evolution
言語 en
言語
言語 eng
資源タイプ
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
資源タイプ journal article
アクセス権
アクセス権 metadata only access
アクセス権URI http://purl.org/coar/access_right/c_14cb
著者 HAYAKAWA, Toshiyuki

× HAYAKAWA, Toshiyuki

HAYAKAWA, Toshiyuki

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AKI, Ikuko

× AKI, Ikuko

AKI, Ikuko

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VARKI, Ajit

× VARKI, Ajit

VARKI, Ajit

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SATTA, Yoko

× SATTA, Yoko

SATTA, Yoko

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TAKAHATA, Naoyuki

× TAKAHATA, Naoyuki

TAKAHATA, Naoyuki

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著者別名 尚之, 高畑

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尚之, 高畑

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抄録
内容記述タイプ Abstract
内容記述 The human CMP-N-acetylneuraminic acid hydroxylase gene (CMAH) suffered deletion of an exon that encodes an active center for the enzyme ∼3.2 million years ago (MYA). We analyzed a 7.3-kb intronic region of 132 CMAH genes to explore the fixation process of this pseudogene and the demographic implication of its haplotype diversity. Fifty-six variable sites were sorted into 18 different haplotypes with significant linkage disequilibrium. Despite the rather low nucleotide diversity, the most recent common ancestor at CMAH dates to 2.9 MYA. This deep genealogy follows shortly after the original exon deletion, indicating that the deletion has fixed in the population, although whether this fixation was facilitated by natural selection remains to be resolved. Remarkable features are exceptionally long persistence of two lineages and the confinement of one lineage in Africa, implying that some African local populations were in relative isolation while others were directly involved in multiple African exoduses of the genus Homo. Importantly, haplotypes found in Eurasia suggest interbreeding between then-contemporaneous human species. Although population structure within Africa complicates the interpretation of phylogeographic information of haplotypes, the data support a single origin of modern humans, but not with complete replacement of archaic inhabitants by modern humans.
書誌情報 Genetics
en : Genetics

巻 172, 号 2, p. 1139-1146, 発行日 2006-02
出版者
出版者 The Genetics Society of America
ISSN
収録物識別子タイプ ISSN
収録物識別子 00166731
PubMed番号
識別子タイプ PMID
関連識別子 16272417
DOI
識別子タイプ DOI
関連識別子 https://doi.org/10.1534/genetics.105.046995
関連名称 10.1534/genetics.105.046995
権利
権利情報 © 2006 by The Genetics Society of America
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