Identification of genes responsible for disease in human iPS cells

2015 Fiscal Year Final Research Report

• Project/Area Number: 24241064
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Medical genome science
• Research Institution: Osaka University
• Principal Investigator: Takeda Junji 大阪大学, 医学(系)研究科(研究院), 教授 (50163407)
• Project Period (FY): 2012-04-01 – 2016-03-31
• Keywords: 疾患関連遺伝子 / ヒトiPS細胞

Outline of Final Research Achievements

The purpose of this project is establishment of efficient system for conversion of mono-allelic mutation to bi-allelic mutations in human iPS cell lines. The system is able to identify hidden mutations in human genome without mating.
At first, we made a human iPS cell line in which expression of Bloom syndrome gene (BLM) is suppressed with an addition of doxycycline. Deficiency of BLM results in enhancement of chromosomal crossing over. Combination of BLM deficiency and CRISPR/Cas9-mediated DNA double strand break facilitate site-specific chromosomal crossing over. These results indicate that heterozygous hidden mutations in human genome can be converted to homozygous mutations and identified by mapping of homozygousity.

Free Research Field

分子生物学、発生工学