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A novel in-frame deletion in the leucine zipper domain of C/EBPε leads to neutrophil-specific granule deficiency
http://hdl.handle.net/2297/43044
http://hdl.handle.net/2297/43044e5694f9b-70a7-421c-9cf0-80f96f628c6a
名前 / ファイル | ライセンス | アクション |
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HO-PR-WADA-T-80.pdf (1.5 MB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2017-10-03 | |||||
タイトル | ||||||
タイトル | A novel in-frame deletion in the leucine zipper domain of C/EBPε leads to neutrophil-specific granule deficiency | |||||
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 | |||||
著者 |
Wada, Taizo
× Wada, Taizo× Akagi, Tadayuki× Muraoka, Masahiro× Toma, Tomoko× Kaji, Kenzo× Agematsu, Kazunaga× Koeffler, Phillip× Yokota, Takashi× Yachie, Akihiro |
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書誌情報 |
Journal of Immunology 巻 195, 号 1, p. 80-86, 発行日 2015-07-01 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 0022-1767 | |||||
NCID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA00699656 | |||||
DOI | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.4049/jimmunol.1402222 | |||||
出版者 | ||||||
出版者 | American Association of Immunologists | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Neutrophil-specific granule deficiency (SGD) is a rare autosomal recessive primary immunodeficiency characterized by neutrophil dysfunction, bilobed neutrophil nuclei and lack of neutrophil-specific granules. Defects in a myeloid-specific transcription factor, CCAAT/enhancer binding protein-ε (C/EBPε), have been identified in two cases in which homozygous frameshift mutations led to loss of the leucine zipper domain. In this study, we report a 55-y-old woman affected with SGD caused by a novel homozygous 2-aa deletion (ΔRS) in the leucine zipper domain of the C/EBPε gene. The patient showed characteristic neutrophil abnormalities and recurrent skin infections; however, there was no history of deep organ infections. Biochemical analysis revealed that, in contrast to the two frameshift mutations, the ΔRS mutant maintained normal cellular localization, DNA-binding activity, and dimerization, and all three mutants exhibited marked reduction in transcriptional activity. The ΔRS mutant was defective in its association with Gata1 and PU.1, as well as aberrant cooperative transcriptional activation of eosinophil major basic protein. Thus, the ΔRS likely impairs protein-protein interaction with other transcription factors, resulting in a loss of transcriptional activation. These results further support the importance of the leucine zipper domain of C/EBPε for its essential function, and indicate that multiple molecular mechanisms lead to SGD. © 2015 by The American Association of Immunologists, Inc. | |||||
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 |