| 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
AKI, Ikuko
VARKI, Ajit
SATTA, Yoko
TAKAHATA, Naoyuki
|
| 著者別名 |
尚之, 高畑
|
| 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 |
