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Structural and phylogenetic comparison of napsin genes: The duplication, loss of function and human-specific pseudogenization of napsin B
http://hdl.handle.net/10069/32939
http://hdl.handle.net/10069/32939be99bb68-1663-494f-96ac-2b142e3952df
名前 / ファイル | ライセンス | アクション |
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Gene517_147.pdf (2.7 MB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2013-07-25 | |||||
タイトル | ||||||
タイトル | Structural and phylogenetic comparison of napsin genes: The duplication, loss of function and human-specific pseudogenization of napsin B | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Gene duplication | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Napsin | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Phylogeny | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Pseudogenization | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | SNP | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Synteny | |||||
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 | |||||
著者 |
Nishishita, Kazuhisa
× Nishishita, Kazuhisa× Sakai, Eiko× Okamoto, Kuniaki× Tsukuba, Takayuki |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Aspartic proteinases form a widely distributed protein superfamily, including cathepsin D, cathepsin E, pepsins, renin, BACE and napsin. Human napsin genes are located on human chromosome 19q13, which comprises napsin A and napsin B. Napsin B has been annotated as a pseudogene because it lacks an in-frame stop codon; its nascent chains are cotranslationally degraded. Until recently, there have been no studies concerning the molecular evolution of the napsin protein family in the human genome. In the present study, we investigated the evolution and gene organization of the napsin protein family. Napsin B orthologs are primarily distributed in primates, while napsin A orthologs are the only napsin genes in other species. The corresponding regions of napsin B in the available sequences from primate species contain an in-frame stop codon at a position equivalent to that of human napsin A. In addition, a rare single-nucleotide polymorphism (SNP) that creates a proper stop codon in human napsin B was identified using HapMap populations. Recombinant protein expression and three-dimensional comparative modeling revealed that napsin B exhibits residual activity toward synthetic aspartic protease substrates compared with napsin A, presumably through a napsin B-specific Arg287 residue. Thus, napsin B was duplicated from napsin A during the early stages of primate evolution, and the subsequent loss of napsin B function during primate evolution reflected ongoing human-specific napsin B pseudogenization. | |||||
書誌情報 |
Gene 巻 517, 号 2, p. 147-157, 発行日 2013-01-01 |
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出版者 | ||||||
出版者 | Elsevier | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 03781119 | |||||
DOI | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1016/j.gene.2013.01.013 | |||||
権利 | ||||||
権利情報 | © 2013 Elsevier B.V. | |||||
権利 | ||||||
権利情報 | NOTICE: this is the author’s version of a work that was accepted for publication in Gene. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published in Gene, 517, 2(2013) | |||||
著者版フラグ | ||||||
出版タイプ | AM | |||||
出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Gene, 517(2), pp.147-157; 2013 |