Molecular mechanism of aneuploidy syndrome: Pallsiter-Killian syndrome as a model

2015 Fiscal Year Final Research Report

• Project/Area Number: 26870139
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Medical genome science; Human genetics
• Research Institution: The University of Tokyo
• Principal Investigator: Kosuke Izumi 東京大学, 分子細胞生物学研究所, 助教 (40383707)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 染色体異常 / モザイク

Outline of Final Research Achievements

Pallister-Killian syndrome (PKS) is caused by chromosomal duplication of 12p, which exists as mosaic aneuploidy. In order to understand the molecular mechanism of PKS, we evaluated the transcriptome pattern and epigenomic alteration in PKS patient-derived samples. Our data indicates the presence of unique transcriptome profile in PKS. Furthermore, there were unique epigenomic alterations seen only in PKS samples, suggesting the involvement of epigenomic alteratiosn in the pathogenesis of PKS. Our study revealed these novel insights into the molecular mechanism of PKS, and such insights may have implications for other aneuploidy syndromes such as Down syndrome.

Free Research Field

細胞遺伝学