Analysis of spontaneous polycythemia model mouse "pocy" showing recessive inheritance.
| Project/Area Number |
17K19918
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| Research Category |
Grant-in-Aid for Challenging Research (Exploratory)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Health science and related fields
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| Research Institution | Kumamoto University |
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Principal Investigator |
Araki Masatake 熊本大学, 生命資源研究・支援センター, 准教授 (80271609)
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| Co-Investigator(Kenkyū-buntansha) |
荒木 喜美 熊本大学, 生命資源研究・支援センター, 教授 (90211705)
吉信 公美子 熊本大学, 生命資源研究・支援センター, 助教 (20274730)
要 匡 国立研究開発法人国立成育医療研究センター, ゲノム医療研究部, 部長 (40264288)
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| Research Collaborator |
HAYASIDA RYUUSEI
KITAMOTO YUURI
TORIGOE DAISUKE
NAKAMURA NAOKO
NAKAGATA NAOMI
TAKAOKA YUTAKA
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| Project Period (FY) |
2017-06-30 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥6,500,000 (Direct Cost: ¥5,000,000、Indirect Cost: ¥1,500,000)
Fiscal Year 2018: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2017: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
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| Keywords | 多血症 / 自然発生突然変異マウス / pocy / 潜性（劣性）遺伝 / 潜性遺伝 / 劣性遺伝 / 発毛異常 / 次世代シーケンサ |
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| Outline of Final Research Achievements |
We found a spontaneous mutant mouse line showing red color with recessive inheritance. As a result of the blood test, it was confirmed that this recessive mutant mouse was a model mouse of polycythemia, hence it was named pocy (Familial Polycythemia).
Pocy showed temporary polycythemia. Compared to C57BL/6N mice, pocy showed high level of RBC (the number of Red Blood Cells), HGB (Hemoglobin concentration) and HCT (Hematocrit value) during three to eight weeks after birth,
Exome analysis was performed to detect 18 candidate genes having a pocy specific mutation. DNA analysis of pocy2 and ES cells left two genes as candidates. Taking account of the literature information, I was able to narrow down the responsible gene to one. In order to confirm that mutation (m) of this gene is the cause of the pocy phenotype, we successfully introduced mutation (m) into C57BL / 6N mice using genome editing technology.
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| Academic Significance and Societal Importance of the Research Achievements |
通常、自然発生突然変異マウスは顕性（優性）遺伝であることが多く、潜性（劣性）遺伝は稀である。本研究により、潜性遺伝形式を示す、これまでに知られていなかった多血症の存在が示唆された。
多血症は無症状のこともあるが、各血球が増え血液が濃くなり、血液粘度が上昇して流れにくくなるため、中枢神経系の血液循環が障害されることで、頭痛、めまい、ほてり、のぼせ、耳鳴りの症状が起きることが多い。高血圧も一つの特徴である。pocyの解析により、これまで原因不明とされていた患者が『多血症』と診断されるようになるかもしれない。重篤な病気ではないが、特効薬が開発されれば、市場規模としては大きい可能性もある。
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Report
(3 results)
Research Products
(26 results)
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[Journal Article] LPA5 signaling is involved in multiple sclerosis-mediated neuropathic pain in the cuprizone mouse model.2018
Author(s)
Tsukahara, R., Yamamoto, S., Yoshikawa, K., Gotoh, M., Tsukahara, T., Neyama, H., Ishii, S., Akahoshi, N., Yanagida, K., Sumida, H., Araki, M., Araki, K., Yamamura, K. I., Murakami-Murofushi, K., Ueda, H.
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Journal Title
J. Pharmacol. Sci.
Volume: 136
Pages: 93-96
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Endothelial CD99 supports arrest of mouse neutrophils in venules and binds to neutrophil PILRs.2017
Author(s)
Goswami, D., Marz, S., Li, Y. T., Artz, A., Schafer, K., Seelige, R., Pacheco-Blanco, M., Jing, D., Bixel, M, G., Araki, M., Araki, K., Yamamura, K. and vestweber, D.
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Journal Title
Blood.
Volume: 129
Pages: 1811-1822
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Development of an officient scrcening system to identify novcl bone metabolism-relatcd goncs using the exchangcable gene trap mutagenesis mouse models.2017
Author(s)
Kurogi, S., Sekimoto, T., Funamoto, T., Ota, T., Nakamura, S., Nagai, T., Nakahara, M., Yoshinobu, K., Araki, K., Araki, M. and Chosa, E.
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Journal Title
Sci Rop
Volume: 7
Pages: 40692-40692
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] MiR-142 Is required for staphylococcus aureus clearance at skin wound wites via small GTPasc-mediated regulation of thenNeutrophil actin cytoskeleton.2017
Author(s)
Tanaka, K., Kim, S. E., Yano, H., Matsumoto, G., Ohuchida, R., Ishikura, Y., Araki, M., Araki, K., Park, S., Komatsu, T., Hayashi, H., Ikematsu, K., Hirano, A., Martin. P., Shimokawa, I. and Mori. R
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Journal Title
J. Invest. Dermatol.
Volume: 137
Pages: 931-940
DOI
NAID
Related Report
Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
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[Presentation] Analyses of Tmem161a function in bone metabolism using the exchangeable gene trap mutagenesis show significant bone ingrowth.2018
Author(s)
(1)Nagai T, Sekimoto T, Kurogi S, Funamoto T, Tajima T, Imasaka M, Yoshinobu K, Araki K, Araki M, Chosa E
Organizer
Australian New Zealand Bone & Mineral Society Annual Scientific Meeting 2018：Rydges Hotel, Queenstown, New Zealand 2-5 September 2018
Related Report
Int'l Joint Research
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