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KAKEN_24659467seika.pdf
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:95.8 KB
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:Dec 11, 2014 |
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| Title |
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骨髄異形成症候群(5q-症候群)発症におけるATOX1遺伝子の役割
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コツズイ イケイセイ ショウコウグン (5q-ショウコウグン) ハッショウ ニ オケル ATOX1 イデンシ ノ ヤクワリ
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Kotsuzui ikeisei shokogun (5q-shokogun) hassho ni okeru ATOX1 idenshi no yakuwari
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A role for ATOX1 in 5q- syndrome
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中島, 秀明
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ナカジマ, ヒデアキ
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Nakajima, Hideaki
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慶應義塾大学・医学部・准教授
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Research team head
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科研費研究者番号 : 30217723
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岡本, 真一郎
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オカモト, シンイチロウ
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Okamoto, Shinichiro
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慶應義塾大学・医学部・教授
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Research team member
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科研費研究者番号 : 50160718
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2014
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科学研究費補助金研究成果報告書
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2013
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5q-症候群は染色体5q33領域の欠失を特徴とする骨髄異形成症候群(MDS)の亜型であるが、その責任遺伝子の詳細は不明である。本研究は5q33領域に存在するATOX1という銅シャペロン遺伝子に注目し、HSCの恒常性維持や5q-症候群発症における役割を明らかにする目的で行った。
ATOX1ノックアウトマウスの造血幹細胞 (HSC)・各種造血前駆細胞分画を解析すると、骨髄中の各細胞の頻度は野生型マウスと変わらず、またHSCの長期骨髄再建能・自己複製能にも異常がないことが判明した。以上から、ATOX1はHSC機能や血球分化に必須ではなく、5q-症候群への関与も限定的であることが示唆された。
5q- syndrome is a subtype of myelodysplastic syndrome characterized by a deletion of chromosome 5q33. To elucidate molecular pathogenesis of 5q- syndrome, we focused on ATOX1, a cupper chaperone located in the common deleted region of 5q33. Frequencies of hematopoietic stem cells (HSCs), multipotent hematopoietic progenitors, and lineage-committed progenitors in the bone marrow were normal in ATOX1-/- mice, and ATOX1-/- HSCs maintained normal self-renewal and long-term repopulating capacities. These results suggest that ATOX1 is not essential for HSC function and hematopoietic differentiation, and that ATOX1 has little, if any, roles in 5q- syndrome.
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研究種目 : 挑戦的萌芽研究
研究期間 : 2012~2013
課題番号 : 24659467
研究分野 : 医歯薬学
科研費の分科・細目 : 内科系臨床医学・血液内科学
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