Analysis of chromosome conformation and breakpoints of balanced translocations in human

2014 Fiscal Year Final Research Report

• Project/Area Number: 24501307
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Carcinogenesis
• Research Institution: Fujita Health University
• Principal Investigator: INAGAKI Hidehito 藤田保健衛生大学, 総合医科学研究所, 講師 (70308849)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: DNA secondary structure / Translocation / Chromosome conformation

Outline of Final Research Achievements

Chromosomal translocations are mediated by illegitimate joining between distal parts of the different chromosomes. But the mechanism of proximity of these ends remains unknown which should have been repaired precisely. In this study, I used a palindromic sequence that induces frequent (1/20,000) de novo translocation in sperm from healthy men, and analyzed the interaction of these specific sequences that form DNA secondary structures in vivo. I found that the secondary structures were cleaved by two endogenous DNA repair enzymes, that the other DNA secondary structure also influences the chromosome metabolisms. Because of the difficulty of the DNA secondary structure, the chromosome conformation analysis remains a future subject.

Free Research Field

人類遺伝学