Analysis of transpositional mutation in tumors

• Project/Area Number: 15K08397
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Experimental pathology
• Research Institution: Hamamatsu University School of Medicine
• Principal Investigator: Kahyo Tomoaki 浜松医科大学, 医学部, 助教 (40416665)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Project Status: Completed (Fiscal Year 2017)
• Budget Amount: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000); Fiscal Year 2017: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000); Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2015: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: 腫瘍 / HERV / NGS / 変異 / 多型 / がんゲノム / 内在性レトロウイルス / 挿入変異 / 次世代シーケンサー / 肺がん / 胃がん / 大腸がん / レトロトランスポジション

Outline of Final Research Achievements

A genome is the complete set of genetic information in an organism. Human endogenous retrovirus (HERV) within our genome is known as a retrotransposon and similar to present day exogenous retroviruses. In this study, the HERV insertional mutations in tumor were investigated. Next-generation sequencing analysis revealed some HERV insertional mutations in tumor, but they could not be validated using a long range PCR method. The number of HERVs is different between individuals, and it is known as an insertional polymorphism. In this study, some HERV insertional polymorphisms with prominent feature were found.

Research Products

• [Journal Article] Insertionally polymorphic sites of human endogenous retrovirus-K (HML-2) with long target site duplications. (2017)
  • Author(s): Kahyo T, Yamada H, Tao H, Kurabe N, Sugimura H
  • Journal Title: BMC Genomics Volume: 18 Issue: 1 Pages: 487-494
  • DOI: 10.1186/s12864-017-3872-6
  • Peer Reviewed / Open Access
• [Journal Article] Application of digital PCR with chip-in-a-tube format to analyze Adenomatous polyposis coli (APC) somatic mosaicism. (2017)
  • Author(s): Kahyo T, Iwaizumi M, Yamada H, Tao H, Kurachi K, Sugimura H
  • Journal Title: Clin Chim Acta. Volume: 475 Pages: 91-96
  • DOI: 10.1016/j.cca.2017.10.015
  • Peer Reviewed
• [Presentation] Application of digital PCR with chip-in-a-tube format to analyze Adenomatous polyposis coli (APC) somatic mosaicism (2017)
  • Author(s): Tomoaki Kahyo, Moriya Iwaizumi, Hidetaka Yamada, Hong Tao, Kiyotaka Kurachic, Haruhiko Sugimura
  • Organizer: 第40回日本分子生物学会年次会
• [Presentation] A frameshift germline mutation of SMAD4 gene in massive gastric polyposis (2016)
  • Author(s): 華表 友暁
  • Organizer: 第75回日本癌学会学術総会
  • Place of Presentation: パシフィコ横浜
  • Year and Date: 2016-10-06
• [Presentation] A comprehensive investigation of insertional variations of human endogenous retrovirus elements in tumor tissues (2015)
  • Author(s): Tomoaki Kahyo, Hidetaka Yamada, Hong Tao, Yusuke Inoue, Nobuya Kurabe, Kazuya Shinmura, Haruhiko Sugimura
  • Organizer: American Association for Cancer Research
  • Place of Presentation: Philadelphia (米国)
  • Year and Date: 2015-04-18
• [Remarks] TKahyo GitHub
  • URL: https://github.com/TKahyo/