Functional analysis of Lnk gene responsible for myeloproliferative neoplasma

• Project/Area Number: 24591399
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Hematology
• Research Institution: Ehime University
• Principal Investigator: YAMANOUCHI Jun 愛媛大学, 医学部附属病院, 講師 (10423451)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000); Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
• Keywords: 本態性血小板血症 / 骨髄増殖性腫瘍

Outline of Final Research Achievements

I analyzed for the JAK2 V617F mutation and Lnk mutations in patients with essential thrombocythemia. As a result, it was found a heterozygous gene abnormality in the SH2 domain of Lnk gene in a patient with JAK2 V617F mutation negative. This mutation was a new variant that has not been reported previously. Therefore, I analyzed the impact of this Lnk mutation on the signaling and phosphorylation in JAK / STAT system using BaF3 cells and mouse ES cells.

Research Products

• [Journal Article] 3.Abnormal behaviors and developmental disorder of hippocampus in zinc finger protein 521 (ZFP521) mutant mice. (2014)
  • Author(s): Ohkubo N, Matsubara E, Yamanouchi J, Akazawa R, Aoto M, Suzuki Y, Sakai I, Abe T, Kiyonari H, Matsuda S, Yasukawa M, Mitsuda N.
  • Journal Title: PLoS One Volume: 9
  • Peer Reviewed / Open Access
• [Journal Article] Accelerated destruction of erythrocytes in Tie2 promoter-driven STAT3 conditional knockout mice. (2013)
  • Author(s): Ohkubo N, Suzuki Y, Aoto M, Yamanouchi J, Hirakawa S, Yasukawa M, Mitsuda N
  • Journal Title: Life Sciences Volume: 93 Pages: 380-387
  • Peer Reviewed
• [Presentation] Activation status of integrin aIIbb3 in essential thrombocythemia with calreticulin mutation (2014)
  • Author(s): Yamanouchi J, Hato T, Matsubara E, Azuma T, Nakanishi H, Fujiwara H, Yakushijin Y, Yasukawa M.
  • Organizer: 56th ASH Annual Meeting
  • Place of Presentation: San Francisco, CA, USA
  • Year and Date: 2014-12-08
• [Presentation] Activation status of integrin aIIbb3 in essential thrombocythemia with calreticulin mutation (2014)
  • Author(s): Yamanouchi J, Hato T, Nakanishi H, Asai H, Matsubara E, Tanimoto K, Azuma T, Fujiwara H, Yakushijin Y, Yasukawa M.
  • Organizer: 第76回日本血液学会学術集会
  • Place of Presentation: 大阪市
  • Year and Date: 2014-10-31
• [Presentation] 骨髄増殖性腫瘍の新しい原因遺伝子Lnkの機能解析
  • Author(s): 山之内純
  • Organizer: 第５回愛媛大学学術フォーラム
  • Place of Presentation: 愛媛県松山市