The elucidation of the carcinogenic mechanism of the Down's syndrome using chromosome engineering technology

2017 Fiscal Year Final Research Report

• Project/Area Number: 25221308
• Research Category: Grant-in-Aid for Scientific Research (S)
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Tottori University
• Principal Investigator: OSHIMURA Mitsuo 鳥取大学, 染色体工学研究センター, 特任教授 (20111619)
• Co-Investigator(Kenkyū-buntansha): 尾崎 充彦 鳥取大学, 医学部, 准教授 (40325006)
• Project Period (FY): 2013-05-31 – 2018-03-31
• Keywords: 染色体工学 / 小児血液学

Outline of Final Research Achievements

Down syndrome is a congenital disease caused by trisomy 21. To elucidate the mechanism of the onset of acute megakaryoblastic leukemia which is frequently occurred in Down's syndrome, novel Down's syndrome model mice and the model human ES cell lines were generated by using our original chromosome engineering technology. Behavioral abnormalities and hematologic abnormalities were observed in the model mice, and haematopoiesis abnormalities were observed in the model human ES cells due to the synergistic effect of trisomy 21 and GATA1 mutation. Furthermore, we succeeded in narrowing down the responsible region on chromosome 21 of the haematopoiesis abnormalities by introducing fragmented human chromosome 21 into human ES cells.

Free Research Field

医歯薬学・内科系臨床医学・小児科学