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Survey of age-estimation marker(s) based on the age-dependent transcription factors and its forensic applications

Research Project

Project/Area Number 25460864
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Legal medicine
Research InstitutionUniversity of Fukui

Principal Investigator

Ueki Misuzu  福井大学, 学術研究院医学系部門, 助手 (00165656)

Co-Investigator(Renkei-kenkyūsha) YASUDA Toshihiro  福井大学, 学術研究院医学系部門, 教授 (00165656)
IIDA Reiko  福井大学, 学術研究院医学系部門, 准教授 (40139788)
KOMINATO Yoshihiko  群馬大学, 医学系研究科, 教授 (30205512)
Project Period (FY) 2013-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2013: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Keywords個人識別 / 年齢推定 / 外見推定 / 年齢依存性生体分子 / DNase family / SNP / 遺伝的リスクファクター / CNV / Mpv17-like protein / DNA修復 / 非同義置換型 SNP / 遺伝子型―活性相関 / 遺伝子型分布 / リスクファクター / 転写抑制因子 / RhitH / DNase I / 非同義置換型
Outline of Final Research Achievements

The aims of this study were to confirm a molecular basis on utilization of age-estimation markers for forensic individualization; (1) Age-dependent M-LP gene, previously identified, is involved in the maintenance of mtDNA, thereby protects cells from mitochondrial dysfunction. (2) Expression of human M-LP is partly regulated by human homolog of Rhit identified in mice. (3) Among non-synonymous SNPs in the human Rhit gene there are several ones producing loss-of-function. (4) Rhit-knockout mice exhibited no unique phenotype, and no inverse relationship between the human Rhit and M-LP mRNA levels in various human tissues. These findings allow us to postulate that the Rhit might be functionally complemented by other factor(s). (5)Simple genotyping method that has considerable potential for screening of trait-related CNVs useful for forensic casework was developed. (6) Functional SNPs, possibly served as genetic risk factor for autoimmunity, in the human DNase family genes were identified.

Report

(5 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Research-status Report
  • 2014 Research-status Report
  • 2013 Research-status Report
  • Research Products

    (36 results)

All 2017 2016 2015 2014 2013 Other

All Journal Article (23 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 18 results,  Acknowledgement Compliant: 9 results,  Open Access: 8 results) Presentation (13 results)

  • [Journal Article] Simple screening method for copy number variations associated with physical features2017

    • Author(s)
      M Ueki, H Takeshita, J Fujihara, K Kimura-Kataoka, R Iida, T Yasuda
    • Journal Title

      Legal Med

      Volume: 25 Pages: 71-74

    • DOI

      10.1016/j.legalmed.2017.01.006

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Survey of Single-Nucleotide Polymorphisms in the Gene Encoding Human Deoxyribonuclease I-like 2 Producing Loss of Function Potentially Implicated in the Pathogenesis of Parakeratosis2017

    • Author(s)
      M.Ueki, H.Takeshita, N.Utsunomiya, T.Chino, N.Oyama, M.Hasegawa, K.Kimura, J.Fujihara, R.Iida T.Yasuda
    • Journal Title

      PLOS ONE

      Volume: 印刷中

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Functional single nucleotide polymorphisms (SNPs) in the genes encoding the human deoxyribonuclease (DNase) family potentially relevant to autoimmunity2016

    • Author(s)
      M. Ueki, J. Fujihara, K. Kimura, R. Iida, H. Takeshita, T. Yasuda
    • Journal Title

      Immunological Investigation

      Volume: 45 Pages: 406-419

    • Related Report
      2016 Annual Research Report 2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Association of a single nucleotide polymorphism (rs6180) in GHR gene with plural tissue weight2016

    • Author(s)
      J.Fujihara, K. Kimura-Kataoka, T. Yasuda, R. Sano, Y. Kominato, H. Takeshita
    • Journal Title

      Journal of Genetics

      Volume: 95 Issue: 1 Pages: 189-192

    • DOI

      10.1007/s12041-016-0615-4

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Blood identification and discrimination of human and nonhuman using portable Raman spectroscopy2016

    • Author(s)
      Junko Fujihara, Yasuhisa Fujita, Tatsuyuki Yamamoto, Naoki Nishimoto, Kaori Kimura-Kataoka, Satsuki Kurata, Yoshikazu Takinami, Toshihiro Yasuda, Haruo Takeshita
    • Journal Title

      International Journal of Legal Medicine

      Volume: - Issue: 2 Pages: 319-322

    • DOI

      10.1007/s00414-016-1396-2

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] 尋常性乾癬など不全角化病変のリスクファクターとなるDNase I-like 2遺伝子におけるfunctional SNPsの同定2016

    • Author(s)
      藤原純子、木村かおり、竹下治男、飯田礼子、尾山徳孝、知野剛直、長谷川稔、植木美鈴、安田年博
    • Journal Title

      DNA多型

      Volume: 24 Pages: 208-213

    • Related Report
      2016 Annual Research Report
    • Acknowledgement Compliant
  • [Journal Article] Identification of functional SNPs potentially served as a genetic risk factor for the pathogenesis of parakeratosis in the gene encoding human deoxyribonuclease I-like 2 (DNase 1L2) implicated in terminal differentiation of keratinocytes2015

    • Author(s)
      Misuzu Ueki
    • Journal Title

      Gene

      Volume: 印刷中 Issue: 1 Pages: 15-22

    • DOI

      10.1016/j.gene.2015.01.006

    • Related Report
      2015 Research-status Report 2014 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Distribution of the rs3136794 polymorphism of the DNA Polymerase beta gene involved in the base excision repair pathway in world-wide population2015

    • Author(s)
      K.Kimura, T.Yasuda, J.Fujihara, M.Ueki, H.Takeshita
    • Journal Title

      Indian Journal of Clinical Biochemistry

      Volume: 30 Issue: 4 Pages: 445-448

    • DOI

      10.1007/s12291-015-0476-2

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Journal Article] Global analysis of genetic variations in a 56-bp variable number of tandem repeat polymorphisms within the human deoxyribonuclease I gene2015

    • Author(s)
      Junko Fujihara
    • Journal Title

      Legal Medicine

      Volume: 印刷中 Issue: 4 Pages: 283-286

    • DOI

      10.1016/j.legalmed.2015.01.005

    • Related Report
      2015 Research-status Report 2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Identification of interacting partners of human Mpv17-like protein with a mitigating effect of mitochondrial dysfunction through mtDNA damage2015

    • Author(s)
      R.Iida, M.Ueki, T.Yasuda
    • Journal Title

      Free Radical Biology and Medicine

      Volume: 87 Pages: 336-345

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] 自己免疫疾患関連DNase I遺伝子におけるfunctional SNPs;遺伝的リスクファクターの検索2015

    • Author(s)
      藤原 純子、木村 かおり、竹下 治男、飯田 礼子、河合 康幸、植木 美鈴、安田 年博
    • Journal Title

      DNA多型

      Volume: 23 Pages: 185-190

    • Related Report
      2015 Research-status Report
  • [Journal Article] Distribution of the rs3136794 polymorphism of the DNA polymerase beta gene, involved in the base excision repair pathway, in world-wide population2015

    • Author(s)
      Kaori Kimura
    • Journal Title

      Indian Journal of Clinical Biochemistry

      Volume: 印刷中

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Evaluation of all non-synonymous single nucleotide polymorphisms (SNPs) in the genes encoding human deoxyribonuclease I and I-like 3 as a functional SNP potentially implicated in autoimmunity2014

    • Author(s)
      Misuzu Ueki
    • Journal Title

      FEBS Journal

      Volume: 281 Issue: 1 Pages: 376-390

    • DOI

      10.1111/febs.12608

    • Related Report
      2014 Research-status Report 2013 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Evaluation of All Non-Synonymous Single Nucleotide Polymorphisms (SNPs) in the Gene Encoding Human Deoxyribonuclease I-like 1, Possibly Implicated in the Blocking of Endocytosis-Mediated Foreign Gene Transfer2014

    • Author(s)
      Misuzu Ueki
    • Journal Title

      DNA Cell Biology

      Volume: in press Issue: 2 Pages: 79-87

    • DOI

      10.1089/dna.2013.2248

    • Related Report
      2014 Research-status Report 2013 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Identification of the functional alleles of the non-synonymous single-nucleotide polymorphisms potentially implicated in autoimmunity in the human deoxyribonuclease I gene2014

    • Author(s)
      Misuzu Ueki
    • Journal Title

      DNA Cell Biology

      Volume: 33 Issue: 8 Pages: 492-502

    • DOI

      10.1089/dna.2014.2368

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] DNase I-like 2遺伝子の非同義置換型SNPは尋常性乾癬など不全角化病変のリスクファクターである2014

    • Author(s)
      藤原 純子
    • Journal Title

      DNA多型

      Volume: 22 Pages: 187-191

    • Related Report
      2014 Research-status Report
  • [Journal Article] Seven non-synonymous single nucleotide polymorphisms (SNPs) in the gene encoding human deoxyribonuclease II may serve as a functional SNP potentially implicated in autoimmune dysfunction2014

    • Author(s)
      Misuzu Ueki
    • Journal Title

      Electrophoresis

      Volume: in press

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Five non-synonymous single nucleotide polymorphisms in the gene encoding human deoxyribonuclease I-like 2 implicated in terminal differentiation of keratinocytes reduce or abolish its activity2013

    • Author(s)
      Misuzu Ueki
    • Journal Title

      Electrophoresis

      Volume: 34 Pages: 456-462

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Six VKORC1 polymorphisms for Asians and its survey on ethnic wide-ranging populations2013

    • Author(s)
      Junko Fujihara
    • Journal Title

      DNA Polymorphism

      Volume: 21 Pages: 284-290

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Distribution and haplotype analysis of all the non-synonymous and autoimmunity-related single nucleotide polymorphisms in the human deoxyribonuclease II gene using worldwide populations2013

    • Author(s)
      Kaori Kimura
    • Journal Title

      Legal Medicine

      Volume: 15 Issue: 3 Pages: 157-160

    • DOI

      10.1016/j.legalmed.2012.10.002

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Three non-synonymous single nucleotide polymorphisms in the RhitH gene cause reduction of the repression activity that leads to up-regulation of M-LPH, a participant in mitochondrial function2013

    • Author(s)
      R. Iida, M. Ueki, J.Fujiwara, H. Takeshita, K. Kimura-Kataoka, T. Yasuda
    • Journal Title

      BioResearch Open Access

      Volume: 2 Issue: 6 Pages: 440-447

    • DOI

      10.1089/biores.2013.0042

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] 脊椎動物DNase Iの生化学的性状はいくつかのアミノ酸変異により規定される2013

    • Author(s)
      藤原 純子
    • Journal Title

      DNA多型

      Volume: 21 Pages: 112-118

    • Related Report
      2013 Research-status Report
  • [Journal Article] ヒトDNase II遺伝子内プロモーター領域のSNPはプロモーター活性低下によって血清DNase II活性を減少させる2013

    • Author(s)
      木村 かおり
    • Journal Title

      DNA多型

      Volume: 21 Pages: 134-140

    • Related Report
      2013 Research-status Report
  • [Presentation] 法医学的個人識別に有用なCNVのスクリーニング2016

    • Author(s)
      飯田礼子、安田年博、植木美鈴、竹下治男、藤原純子、木村かおり
    • Organizer
      日本DNA多型学会第25回学術集会
    • Place of Presentation
      東京大学大気海洋研究所(千葉県柏市)
    • Year and Date
      2016-12-01
    • Related Report
      2016 Annual Research Report
  • [Presentation] 日本国内および世界人口におけるインターロイキン8内-251A/T多型解析2016

    • Author(s)
      木村かおり、藤原純子、安田年博、倉田さつき、小湊慶彦、佐野理恵、山田和夫、竹下治男
    • Organizer
      日本DNA多型学会第25回学術集会
    • Place of Presentation
      東京大学大気海洋研究所(千葉県柏市)
    • Year and Date
      2016-12-01
    • Related Report
      2016 Annual Research Report
  • [Presentation] ヒト年齢依存性生体分子M-LPの機能解析2016

    • Author(s)
      安田年博、飯田礼子、植木美鈴、竹下治男、小湊義彦
    • Organizer
      第100次日本法医学会学術全国集会
    • Place of Presentation
      品川区立総合区民会館(東京都品川区)
    • Year and Date
      2016-06-17
    • Related Report
      2016 Annual Research Report
  • [Presentation] ABO式血液型遺伝子エンハンサーのハプロタイプはABO遺伝子型とリンクしている2016

    • Author(s)
      中島たみ子、佐野理恵、高橋陽一郎、竹下治男、安田年博、小湊義彦
    • Organizer
      第100次日本法医学会学術全国集会
    • Place of Presentation
      品川区立総合区民会館(東京都品川区)
    • Year and Date
      2016-06-17
    • Related Report
      2016 Annual Research Report
  • [Presentation] 尋常性乾癬など不全角化病変のリスクファクターとなるDNase I-like 2 遺伝子におけるfunctional SNPsの同定2015

    • Author(s)
      藤原 純子、竹下 治男、木村 かおり、植木 美鈴、飯田 礼子、安田 年博、倉田 さつき
    • Organizer
      日本DNA多型学会第24回学術集会
    • Place of Presentation
      岡山大学創立五十周年記念館(岡山県岡山市)
    • Year and Date
      2015-11-19
    • Related Report
      2015 Research-status Report
  • [Presentation] Growth hormone receptor(GHR)遺伝子におけるSNP(rs6180)と臓器重量との関連2015

    • Author(s)
      藤原 純子、竹下 治男、木村 かおり、植木 美鈴、安田 年博、佐野 理恵、小湊 慶彦、倉田 さつき
    • Organizer
      日本DNA多型学会第24回学術集会
    • Place of Presentation
      岡山大学創立五十周年記念館(岡山県岡山市)
    • Year and Date
      2015-11-19
    • Related Report
      2015 Research-status Report
  • [Presentation] ヒ素のメチル化能に関するXRCC1多型とその頻度の世界比較2014

    • Author(s)
      藤原 純子
    • Organizer
      日本DNA多型学会第23回学術集会
    • Place of Presentation
      ウインクあいち(愛知県名古屋市)
    • Year and Date
      2014-11-21
    • Related Report
      2014 Research-status Report
  • [Presentation] 自己免疫疾患関連DNase I遺伝子におけるfunctional SNPs;遺伝的リスクファクターの検索2014

    • Author(s)
      藤原 純子
    • Organizer
      日本DNA多型学会第23回学術集会
    • Place of Presentation
      ウインクあいち(愛知県名古屋市)
    • Year and Date
      2014-11-21
    • Related Report
      2014 Research-status Report
  • [Presentation] A case of death in a bathtub from hypothermia even in medsummer2014

    • Author(s)
      Kaori Kimura
    • Organizer
      9th International Symposium on Advances in Legal Medicine
    • Place of Presentation
      Fukuoka International Congress Center (福岡県福岡市)
    • Year and Date
      2014-06-20
    • Related Report
      2014 Research-status Report
  • [Presentation] Genetic and expression analysis of all the nonsynonymous and autoimmunity-related SNPs in the human deoxyribonuclease II gene2014

    • Author(s)
      Kaori Kimura
    • Organizer
      9th International Symposium on Advances in Legal Medicine
    • Place of Presentation
      Fukuoka International Congress Center (福岡県福岡市)
    • Year and Date
      2014-06-18
    • Related Report
      2014 Research-status Report
  • [Presentation] Genetic analysis of single nucleotide polymorphisms in exons of the human RhitH gene and their effect on its activity as a transcription repressor

    • Author(s)
      飯田 礼子
    • Organizer
      第86回日本生化学会大会
    • Place of Presentation
      パシフィコ横浜(横浜市)
    • Related Report
      2013 Research-status Report
  • [Presentation] DNase I-like 2遺伝子の非同義置換型SNPは尋常性疥癬など不全角化病変ノリスクファクターである

    • Author(s)
      藤原 純子
    • Organizer
      日本DNA多型学会第22回学術集会
    • Place of Presentation
      仙台市戦災復興記念館(仙台市)
    • Related Report
      2013 Research-status Report
  • [Presentation] VKORC1遺伝子に座位する6SNPsのアジア人多集団での分布

    • Author(s)
      藤原 純子
    • Organizer
      日本DNA多型学会第22回学術集会
    • Place of Presentation
      仙台市戦災復興記念館(仙台市)
    • Related Report
      2013 Research-status Report

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Published: 2014-07-25   Modified: 2019-07-29  

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