Molecular analysis of primary microcephaly using genome editing technique

2014 Fiscal Year Final Research Report

• Project/Area Number: 24651222
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Medical genome science
• Research Institution: Hiroshima University
• Principal Investigator: MATSUURA SHINYA 広島大学, 原爆放射線医科学研究所, 教授 (90274133)
• Co-Investigator(Kenkyū-buntansha): MIYAMOTO Tatsuo 広島大学, 原爆放射線医科学研究所, 講師 (40452627)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 遺伝性小頭症

Outline of Final Research Achievements

We searched for mutations in Japanese patients with primary microcephaly using a next-generation sequencer, and found novel mutations in the WDR62/MCPH2 gene in the siblings. To study the functional role of WDR62 in neuronal development, we established a WDR62 knockout cell line using CRISPR/Cas9 system. The cell line showed abnormal mitotic spindle formation. This may result in depletion of neuronal progenitor cells, which lead to reduced brain size in early development.

Free Research Field

遺伝医学