Spatial proximity of PATRRs and their translocation frequencies

• Project/Area Number: 15K19042
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Human genetics
• Research Institution: Fujita Health University
• Principal Investigator: KATO TAKEMA 藤田保健衛生大学, 総合医科学研究所, 助教 (20387690)
• Project Period (FY): 2015-04-01 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2016: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000); Fiscal Year 2015: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: PATRR / 染色体転座 / ゲノム再構成 / 回分配列 / パリンドローム

Outline of Final Research Achievements

To clarify the mechanism of the PATRR-mediated translocation, I attempted to establish comprehensive PATRR-mediated translocations detection system using normal male sperm DNA as a template. Genome walking methods and hybridization capture for PATRR sequence enrichment system were used to identify unknown PATRRs and PATRR-mediated translocations. However these methods are limited to minimize nonspecific sequences. Therefore, I could not established the high sensitivity detection system of unknown PATRRs and translocations using these methods. Comprehensive PATRR and PATRR-mediated translocation detection system remains a future subject. I also attempted to establish single cell comprehensive chromosome analysis system using whole genome amplification and low coverage whole genome sequence by next generation sequencing. This system enable to analyze chromosome copy number alterations of individual germ cells. This result might lead to a chromosome copay number analysis in the future.

Research Products

• [Journal Article] A Japanese case of β-ureidopropionase deficiency with dysmorphic features (2017)
  • Author(s): Akiyama, T., Shibata, T., Yoshinaga, H., Kuhara, T., Nakajima, Y., Kato, T., Maeda, Y., Ohse, M., Oka, M., Kageyama, M., Kobayashi, K.
  • Journal Title: Brain and Development Volume: 39 Issue: 1 Pages: 58-61
  • DOI: 10.1016/j.braindev.2016.08.001
  • Peer Reviewed / Open Access
• [Journal Article] Increased levels of soluble corin in pre-eclampsia and fetal growth restriction. (2016)
  • Author(s): Miyazaki J, *Nishizawa H, Kambayashi A, Ito M, Noda Y, Terasawa S, Kato T, Miyamura H, Shiogama K, Sekiya T, Kurahashi H, Fujii T.
  • Journal Title: Placenta Volume: 48 Pages: 20-25
  • DOI: 10.1016/j.placenta.2016.10.002
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Palindrome-mediated translocations in humans: a new mechanistic model for gross chromosomal rearrangements. (2016)
  • Author(s): Inagaki H, Kato T, Tsutsumi M, Ouchi Y, Ohye T, *Kurahashi H.
  • Journal Title: Front Genet Volume: 7 Pages: 125-125
  • DOI: 10.3389/fgene.2016.00125
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Emergence and Characterization of Unusual DS-1-Like G1P[8] Rotavirus Strains in Children with Diarrhea in Thailand (2015)
  • Author(s): Komoto S, Tacharoenmuang R, Guntapong R, Ide T, Haga K, Katayama K, Kato T, Ouchi Y, Kurahashi H, Tsuji T, Sangkitporn S, Taniguchi K.
  • Journal Title: PLoS One Volume: 10(11) Issue: 11 Pages: 1-22
  • DOI: 10.1371/journal.pone.0141739
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease. (2015)
  • Author(s): Miyazaki J, et al.
  • Journal Title: BMC Med Genet Volume: 16 Issue: 1 Pages: 98-98
  • DOI: 10.1186/s12881-015-0245-3
  • Peer Reviewed / Open Access
• [Journal Article] Whole Genomic Analysis of an Unusual Human G6P[14] Rotavirus Strain Isolated from a Child with Diarrhea in Thailand: Evidence for Bovine-To-Human Interspecies Transmission and Reassortment Events (2015)
  • Author(s): Tacharoenmuang R, Komoto S, Guntapong R, Ide T, Haga K, Katayama K, Kato T, Ouchi Y, Kurahashi H, Tsuji T, Sangkitporn S, Taniguchi K.
  • Journal Title: PLoS One Volume: 10(9) Issue: 9 Pages: 1-23
  • DOI: 10.1371/journal.pone.0139381
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Preimplantation genetic diagnosis/screening by comprehensive molecular testing (2015)
  • Author(s): Kurahashi H, Kato T, Miyazaki J, Nishizawa H, Nishio E, Furukawa H, Miyamura H, Ito M, Endo T, Ouchi Y, Inagaki H, Fujii T
  • Journal Title: Reprod Med Biol Volume: 15 Issue: 1 Pages: 13-19
  • DOI: 10.1007/s12522-015-0216-6
  • Peer Reviewed
• [Presentation] Mechanistic analysis and prediction of interchromosomal insertional translocation (2016)
  • Author(s): Takema Kato, Yuya Ouchi, Hidehito Inagaki, Yoshio Makita, Seiji Mizuno, Hiroki Kurahashi
  • Organizer: The American Society of Human Genetics Annual Meeting
  • Place of Presentation: Vancouver
  • Year and Date: 2016-10-19
  • Int'l Joint Research
• [Presentation] Takema Kato, Yuya Ouchi, Hidehito Inagaki, Yoshio Makita, Seiji Mizuno, Hiroki Kurahashi (2016)
  • Author(s): Mechanisms of Interchromosomal Insertional Translocation
  • Organizer: The 13th International Congress of Human Genetics
  • Place of Presentation: 京都市、京都国際会館
  • Year and Date: 2016-04-04
  • Int'l Joint Research
• [Presentation] Mechanisms of Interchromosomal Insertional Translocation (2016)
  • Author(s): Takema Kato, Yuya Ouchi, Hidehito Inagaki, Yoshio Makita, Seiji Mizuno, Hiroki Kurahashi
  • Organizer: ICHG2016（the 13th International Congress of Human Genetics in 2016）
  • Place of Presentation: 京都国際会館
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] 染色体挿入の発生機序 (2015)
  • Author(s): 加藤武馬、大内雄矢、稲垣秀人、蒔田芳男、水野誠司、倉橋浩樹
  • Organizer: BMB2015（第38回日本分子生物学会年会 第88回日本生化学大会 合同大会)
  • Place of Presentation: 神戸ポートアイランド
  • Year and Date: 2015-12-01
• [Presentation] 染色体挿入の発生機序 (2015)
  • Author(s): 加藤武馬、大内雄矢、稲垣秀人、蒔田芳男、水野誠司、倉橋浩樹
  • Organizer: 日本人類遺伝学会 第60回大会
  • Place of Presentation: 京王プラザホテル
  • Year and Date: 2015-10-14
• [Presentation] 染色体挿入の発生機序 (2015)
  • Author(s): 加藤武馬、大内雄矢、稲垣秀人、倉橋浩樹
  • Organizer: 新学術ゲノム支援 拡大班会議
  • Place of Presentation: 京都国際会館
  • Year and Date: 2015-08-27
• [Presentation] t(8;22)(q24.1;q11.2)の2家系 (2015)
  • Author(s): 加藤武馬、Divya Mishra、稲垣秀人、池田真理子、森貞直哉、飯島一誠、城戸康宏、坂爪悟、古庄知己、涌井敬子、福嶋義光、倉橋浩樹
  • Organizer: 第55回 日本先天異常学会学術集会／第38回小児遺伝学会学術大会
  • Place of Presentation: パシフィコ横浜会議センター
  • Year and Date: 2015-07-25
• [Presentation] Breakpoint analysis of the recurrent constitutional t(8;22)(q24;q11) translocation (2015)
  • Author(s): Takema Kato, Hidehito Inagaki, Divya Mishra, Yuya Ouchi, Makiko Tsutsumi, Tamae Ohye, Hiroki Kurahashi
  • Organizer: 第11回国際ゲノム会議
  • Place of Presentation: 学術総合センター 一橋講堂
  • Year and Date: 2015-05-20
  • Int'l Joint Research
• [Patent(Industrial Property Rights)] 胎児成分の検出方法 (2017)
  • Inventor(s): 加藤武馬
  • Industrial Property Rights Holder: 藤田保健衛生大学
  • Industrial Property Rights Type: 特許
  • Filing Date: 2017-04-19