Establishment of new classification for structural variation based on next generation sequencing

2017 Fiscal Year Final Research Report

• Project/Area Number: 15H04710
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Human genetics
• Research Institution: Fujita Health University
• Principal Investigator: Kurahashi Hiroki 藤田保健衛生大学, 総合医科学研究所, 教授 (30243215)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 染色体 / ゲノム / 構造異常 / 挿入 / 端部欠失・逆位重複 / クロモスリプシス

Outline of Final Research Achievements

It has been unclear how the complex structural variations arise. In this study we analyzed the genomic structure of breakpoints and junctions of complex structural variations. Microarray technique followed by next generation sequencing revealed the genomic information of the breakpoints and junctions. Chromosomal insertions carry complex alternation of the copy number states, suggesting that chromothripsis occurred. Difference of the DNA replication between nuclear genome and chromosome in micronucleus derived from lagging chromosome might lead to the DNA shuttering that might induce the chromothripsis.

Free Research Field

臨床遺伝学