| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2013-07-08 |
| タイトル |
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|
タイトル |
Alu-mediated inactivation of the human CMP-N-acetylneuraminic acid hydroxylase gene |
| タイトル |
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|
タイトル |
Alu-mediated inactivation of the human CMP-N-acetylneuraminic acid hydroxylase gene |
|
言語 |
en |
| 言語 |
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|
言語 |
eng |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
| アクセス権 |
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|
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
SATTA, Yoko
GAGNEUX, Pascal
TAKAHATA, Naoyuki
VARKI, Ajit
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| 著者別名 |
尚之, 高畑
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| 抄録 |
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内容記述タイプ |
Abstract |
|
内容記述 |
Inactivation of the CMP-N-acetylneuraminic acid hydroxylase gene has provided an example of human-specific genomic mutation that results in a widespread biochemical difference between human and nonhuman primates. We have found that, although a region containing a 92-bp exon and an AluSq element in the hydroxylase gene is intact in all nonhuman primates examined, the same region in the human genome is replaced by an AluY element that was disseminated at least one million years ago. We propose a mechanistic model for this Alu-mediated replacement event, which deleted the 92-bp exon and thus inactivated the human hydroxylase gene. It is suggested that Alu elements have played potentially important roles in genotypic and phenotypic evolution in the hominid lineage. |
| 書誌情報 |
Proceedings of the National Academy of Sciences of the United States of America
en : Proceedings of the National Academy of Sciences of the United States of America
巻 98,
号 20,
p. 11399-11404,
発行日 2001-09-25
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| 出版者 |
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出版者 |
National Academy of Sciences |
| ISSN |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
10916490 |
| PubMed番号 |
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|
識別子タイプ |
PMID |
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関連識別子 |
11562455 |
| DOI |
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|
識別子タイプ |
DOI |
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|
関連識別子 |
https://doi.org/10.1073/pnas.191268198 |
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|
関連名称 |
10.1073/pnas.191268198 |
| 権利 |
|
|
権利情報 |
© 2001, The National Academy of Sciences |
