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Comparative analysis of alternative splicing diversity in human and ape brains

Research Project

Project/Area Number 16H04849
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Physical anthropology
Research InstitutionCenter for Novel Science Initatives, National Institutes of Natural Sciences

Principal Investigator

Go Yasuhiro  大学共同利用機関法人自然科学研究機構(新分野創成センター、アストロバイオロジーセンター、生命創成探究, 生命創成探究センター, 特任准教授 (50377123)

Project Period (FY) 2016-04-01 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥19,240,000 (Direct Cost: ¥14,800,000、Indirect Cost: ¥4,440,000)
Fiscal Year 2018: ¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2017: ¥6,760,000 (Direct Cost: ¥5,200,000、Indirect Cost: ¥1,560,000)
Fiscal Year 2016: ¥7,410,000 (Direct Cost: ¥5,700,000、Indirect Cost: ¥1,710,000)
Keywords進化 / ヒト / チンパンジー / 霊長類 / スプライシング / 脳 / 遺伝子発現 / 選択的スプライシング / アイソフォーム / ロングリードシーケンサー
Outline of Final Research Achievements

Rapid growth in high-throughput genomic biology opens new directions for studies focusing on human evolution and search for the molecular basis of human uniqueness. In this study, we have performed comparative transcriptome analysis for quantifying isoform expression using post mortem human and ape brain samples. The results suggested that (1) 2.5% and 7.6% of newly identified isoforms in humans and chimpanzees, respectively, (2) longer UTRs in chimpanzees, (3) more isoforms in humans, (4) 428 and 597 genes that have species-specific exons in humans and chimpanzees, respectively.

Academic Significance and Societal Importance of the Research Achievements

ヒトをヒトたらしめる分子基盤の解明に次世代シーケンサーを代表としたゲノム研究は大きな成果をあげてきたが,残された課題のひとつは転写産物の多様性に関する理解が進んでいない点である.転写産物の比較を行うことによりヒト特異的エクソンの同定が可能となり,それらがヒトの新規形質の分子基盤となる可能性を秘めている.本研究では,既存のゲノム情報に依存しない方法でバイアスなく新規エクソンを同定する手法を開発することに成功した.それらの手法を用いることで新規エクソンやヒト特異的なエクソンを多数同定することができた.今後は,それらの遺伝子の機能解析などを行うことで,ヒトの進化に及ぼした影響を考察する.

Report

(4 results)
  • 2018 Annual Research Report   Final Research Report ( PDF )
  • 2017 Annual Research Report
  • 2016 Annual Research Report
  • Research Products

    (45 results)

All 2019 2018 2017 2016 Other

All Journal Article (9 results) (of which Int'l Joint Research: 3 results,  Peer Reviewed: 9 results,  Open Access: 5 results,  Acknowledgement Compliant: 1 results) Presentation (26 results) (of which Int'l Joint Research: 6 results,  Invited: 17 results) Remarks (10 results)

  • [Journal Article] Nonsense mutation in PMEL is associated with yellowish plumage colour phenotype in Japanese quail2018

    • Author(s)
      Ishishita Satoshi、Takahashi Mayuko、Yamaguchi Katsushi、Kinoshita Keiji、Nakano Mikiharu、Nunome Mitsuo、Kitahara Shumpei、Tatsumoto Shoji、Go Yasuhiro、Shigenobu Shuji、Matsuda Yoichi
    • Journal Title

      Scientific Reports

      Volume: 8 Issue: 1 Pages: 16732-16732

    • DOI

      10.1038/s41598-018-34827-4

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] The neuropathological investigation of the brain in a monkey model of autism spectrum disorder with ABCA13 deletion2018

    • Author(s)
      Iritani S, Torii Y, Habuchi C, Sekiguchi H, Fujishiro H, Yoshida M, Go Y, Iriki A, Isoda M, Ozaki N.
    • Journal Title

      Int J Dev Neurosci.

      Volume: 71 Issue: 1 Pages: 130-139

    • DOI

      10.1016/j.ijdevneu.2018.09.002

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Transcriptional activation of a chimeric retrogene PIPSL in a hominoid ancestor2018

    • Author(s)
      Matsumura Kenya、Imai Hiroo、Go Yasuhiro、Kusuhara Masatoshi、Yamaguchi Ken、Shirai Tsuyoshi、Ohshima Kazuhiko
    • Journal Title

      Gene

      Volume: 678 Pages: 318-323

    • DOI

      10.1016/j.gene.2018.08.033

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Human-specific features of spatial gene expression and regulation in eight brain regions2018

    • Author(s)
      Xu Chuan、Li Qian、Efimova Olga、He Liu、Tatsumoto Shoji、Stepanova Vita、Oishi Takao、Udono Toshifumi、Yamaguchi Katsushi、Shigenobu Shuji、Kakita Akiyoshi、Nawa Hiroyuki、Khaitovich Philipp、Go Yasuhiro
    • Journal Title

      Genome Research

      Volume: 28 Issue: 8 Pages: 1097-1110

    • DOI

      10.1101/gr.231357.117

    • NAID

      120006496952

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Digital gene atlas of neonate common marmoset brain2018

    • Author(s)
      Shimogori T, Abe A, Go Y, Hashikawa T, Kishi N, Kikuchi S, Kita Y, Niimi K, Nishibe H, Okuno M, Saga K, Sakurai M, Sato M, Serizawa T, Suzuki S, Takahashi E, Tanaka M, Tatsumoto S, Toki M, U M, Wang Y, Windak KJ, Yamagishi H, Yamashita K, Yoda T, Yoshida AC, Yoshida C, Yoshimoto T, Okano H
    • Journal Title

      Neuroscience Research

      Volume: 128 Pages: 1-13

    • DOI

      10.1016/j.neures.2017.10.009

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Direct estimation of de novo mutation rates in a chimpanzee parent-offspring trio by ultra-deep whole genome sequencing2017

    • Author(s)
      Tatsumoto Shoji、Go Yasuhiro、Fukuta Kentaro、Noguchi Hideki、Hayakawa Takashi、Tomonaga Masaki、Hirai Hirohisa、Matsuzawa Tetsuro、Agata Kiyokazu、Fujiyama Asao
    • Journal Title

      Scientific Reports

      Volume: 7 Issue: 1 Pages: 13561-13561

    • DOI

      10.1038/s41598-017-13919-7

    • NAID

      120006358802

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Evolution of the sperm methylome of primates is associated with retrotransposon insertions and genome instability2017

    • Author(s)
      Fukuda Kei、Inoguchi Yukihiro、Ichiyanagi Kenji、Ichiyanagi Tomoko、Go Yasuhiro、Nagano Masashi、Yanagawa Yojiro、Takaesu Noboru、Ohkawa Yasuyuki、Imai Hiroo、Sasaki Hiroyuki
    • Journal Title

      Human Molecular Genetics

      Volume: 26 Issue: 18 Pages: 3508-3519

    • DOI

      10.1093/hmg/ddx236

    • NAID

      120006367980

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Single-neuron and genetic correlates of autistic behavior in macaque2016

    • Author(s)
      K. Yoshida, Y. Go, I. Kushima, A. Toyoda, A. Fujiyama, H. Imai, N. Saito, A. Iriki, N. Ozaki, M. Isoda
    • Journal Title

      Science Advances

      Volume: 2 Issue: 9

    • DOI

      10.1126/sciadv.1600558

    • NAID

      120006222007

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] The life history of retrocopies illuminates the evolution of new mammalian genes.2016

    • Author(s)
      F. N. Carelli, T. Hayakawa, Y. Go, H. Imai, M. Warnefors and H. Kaessmann.
    • Journal Title

      Genome Research

      Volume: 26 Issue: 3 Pages: 301-314

    • DOI

      10.1101/gr.198473.115

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Presentation] Life slowly, life in the dark - insight from slow loris genome2019

    • Author(s)
      Takashi Hayakawa, Shoji Tatsumoto, Takushi Kishida, Hikoyu Suzuki, Hiroe Ishikawa, Masato Nikaido, Yasuhiro Go
    • Organizer
      The 11th International Symposium on Primatology and Wildlife Science
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] マーモセットにおける遺伝的多様性解析および精神・神経疾患関連遺伝子解析2019

    • Author(s)
      郷康広
    • Organizer
      第8回日本マーモセット研究会
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] 脳・こころの個性・多様性理解にむけた比較認知ゲノム研究2019

    • Author(s)
      郷康広
    • Organizer
      平成30年度京都大学霊長類研究所共同利用研究会
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] The evolutionary trajectory of spatial transcriptome and epigenome in primate brains2018

    • Author(s)
      Yasuhiro Go
    • Organizer
      Society for Molecular Biology and Evolution (SMBE) 2018
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] The evolutionary trajectory of spatial transcriptome and epigenome in primate brains2018

    • Author(s)
      Yasuhiro Go
    • Organizer
      The 46th Naito Conference on Mechanisms of Evolution and Biodiversity
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Dissecting the genetic diversity of Japanese’s marmoset colonies2018

    • Author(s)
      Yasuhiro Go
    • Organizer
      Care, use and welfare of marmosets as animal models for gene editing-based biomedical research, A Roundtable of Science and Welfare in Laboratory Animal Use Workshop
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] ゲノムを通して我が身を知る―ヒトとサルの間にあるもの―2018

    • Author(s)
      郷康広
    • Organizer
      第34回日本霊長類学会大会公開シンポジウム
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] 10X Genomics社Chromiumを用いたゲノム・トランスクリプトーム解析2018

    • Author(s)
      郷康広
    • Organizer
      第213回農林交流センターワークショップ
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] Cognitive Genomics in Primates2018

    • Author(s)
      Yasuhiro Go
    • Organizer
      International symposium on Genomics and Cell Biology of Primates
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] 脳・こころの個性・多様性理解に向けた認知ゲノム研究2018

    • Author(s)
      郷康広
    • Organizer
      自然科学研究機構 新分野創成センター合同シンポジウム
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] 霊長類における精神・神経疾患関連遺伝子解析と認知ゲノミクスの展望2018

    • Author(s)
      郷康広
    • Organizer
      京都大学霊長類研究所共同利用研究会
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] 自閉症モデルマーモセット脳における時空間遺伝子発現解析2018

    • Author(s)
      郷康広、佐々木哲也、中垣慶子、小賀智文、辰本将司、石川裕恵、臼井千夏、一戸紀孝
    • Organizer
      第7回日本マーモセット研究会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 霊長類における精神・神経疾患関連遺伝子解析と認知ゲノミクスの展望2017

    • Author(s)
      郷康広
    • Organizer
      京都大学霊長類研究所共同利用研究会
    • Place of Presentation
      京都大学霊長類研究所(愛知県・犬山市)
    • Year and Date
      2017-03-17
    • Related Report
      2016 Annual Research Report
    • Invited
  • [Presentation] 霊長類脳における比較トランスクリプトーム・エピゲノム解析2017

    • Author(s)
      郷康広,辰本将司,Chuan Xu, Qian Li, Olga Efimova, Liu He, 大石高生,鵜殿俊史,山口勝司,重信秀治,柿田明美,那波宏之,Philipp Khaitovich
    • Organizer
      2017年度生命科学系学会合同年次大会(ConBio2017)
    • Related Report
      2017 Annual Research Report
  • [Presentation] ゲノムを通して我が身を知る:ヒト集団にみられる「個性」創発の起源に関する論考2017

    • Author(s)
      郷康広
    • Organizer
      日本社会心理学会第58回大会
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] Spatiotemporal brain transcriptome architecture and application for disease model in marmosets2017

    • Author(s)
      郷康広
    • Organizer
      第27回日本神経回路学会全国大会
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] Spatiotemporal brain transcriptome architecture and application for disease model in marmosets2017

    • Author(s)
      Yasuhiro Go
    • Organizer
      第60回日本神経化学学会大会
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] ロングリード型NGSを用いたニホンザル新規ゲノム配列決定2017

    • Author(s)
      郷康広,辰本将司,石川裕恵
    • Organizer
      第19回日本進化学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] ロングリード型NGSを用いたニホンザル新規ゲノム配列決定2017

    • Author(s)
      郷康広,辰本将司,石川裕恵
    • Organizer
      NGS現場の会第5回研究会
    • Related Report
      2017 Annual Research Report
  • [Presentation] ゲノムを通して我が身を知る:人とヒトとサルの間にあるもの2017

    • Author(s)
      郷康広
    • Organizer
      愛知高等学校特別講演会
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] Spatiotemporal brain transcriptome architecture in the common marmoset2016

    • Author(s)
      Yasuhiro Go
    • Organizer
      第6回日本マーモセット研究会、革新脳国際シンポジウム
    • Place of Presentation
      東京大学(東京都・文京区)
    • Year and Date
      2016-12-12
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Spatiotemporal gene expression trajectory in the human and non-human ape brains2016

    • Author(s)
      Yasuhiro Go
    • Organizer
      6th Joint CIN-NIPS International Symposium
    • Place of Presentation
      Tubingen University (Tubingen, Germany)
    • Year and Date
      2016-10-10
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] マカク属霊長類集団エキソーム解析によるニホンザルの集団遺伝学的解析2016

    • Author(s)
      辰本将司,豊田敦,今井啓雄,平井啓久,山森哲雄,伊佐正,藤山秋佐夫,郷康広
    • Organizer
      日本遺伝学会大会第88回大会
    • Place of Presentation
      日本大学国際関係学部(静岡県・三島市)
    • Year and Date
      2016-09-07
    • Related Report
      2016 Annual Research Report
  • [Presentation] マカク属霊長類集団エキソーム解析によるニホンザルの集団遺伝学的解析2016

    • Author(s)
      郷康広,辰本将司,豊田敦,今井啓雄,平井啓久,山森哲雄,伊佐正,藤山秋佐夫
    • Organizer
      第32回日本霊長類学会大会
    • Place of Presentation
      鹿児島大学(鹿児島県・鹿児島市)
    • Year and Date
      2016-07-16
    • Related Report
      2016 Annual Research Report
  • [Presentation] マーモセットの血液マイクロキメリズムと遺伝的多型解析2016

    • Author(s)
      辰本将司,臼井千夏,石川裕恵,郷康広
    • Organizer
      第32回日本霊長類学会大会
    • Place of Presentation
      鹿児島大学(鹿児島県・鹿児島市)
    • Year and Date
      2016-07-16
    • Related Report
      2016 Annual Research Report
  • [Presentation] 霊長類脳の構造・機能をささえる分子基盤解明にむけたマーモセット全脳遺伝子発現動態2016

    • Author(s)
      郷康広
    • Organizer
      革新的技術による脳機能ネットワークの全容解明プロジェクト・臨床研究グループ分科会
    • Place of Presentation
      東京大学(東京都・文京区)
    • Related Report
      2016 Annual Research Report
  • [Remarks] 自然科学研究機構生命創成探究センター(郷ラボ)のホームページ

    • URL

      http://www.nips.ac.jp/coggen/

    • Related Report
      2018 Annual Research Report
  • [Remarks] 【プレスリリース】ヒトとチンパンジーの脳の違いを発見(自然科学研究機構生命創成探究センター)

    • URL

      http://www.excells.orion.ac.jp/pr/20180802pr01.html

    • Related Report
      2018 Annual Research Report
  • [Remarks] 【プレスリリース】ヒトとチンパンジーの脳の違いを発見(生理学研究所)

    • URL

      https://www.nips.ac.jp/release/2018/08/post_368.html

    • Related Report
      2018 Annual Research Report
  • [Remarks] 【プレスリリース】ヒトとチンパンジーの脳の違いを発見(京都大学)

    • URL

      http://www.kyoto-u.ac.jp/ja/research/research_results/2018/180802_1.html

    • Related Report
      2018 Annual Research Report
  • [Remarks] 【プレスリリース】ヒトとチンパンジーの脳の違いを発見(新潟大学脳研究所)

    • URL

      http://www.bri.niigata-u.ac.jp/result/path/001053.html

    • Related Report
      2018 Annual Research Report
  • [Remarks] 【プレスリリース】チンパンジー親子トリオ(父親-母親-息子)の 全ゲノム配列を高精度で解明

    • URL

      http://www.nins.jp/cnsi/news/news_20171102.php

    • Related Report
      2017 Annual Research Report
  • [Remarks] 研究室のホームページ

    • URL

      http://www.nips.ac.jp/coggen/

    • Related Report
      2017 Annual Research Report
  • [Remarks] 郷研究室のHP

    • URL

      http://cnsi.nins.jp/pcg/index.html

    • Related Report
      2016 Annual Research Report
  • [Remarks] 自然科学研究機構新分野創成センターブレインサイエンス研究分野のHP

    • URL

      http://cnsi.nins.jp/brain/

    • Related Report
      2016 Annual Research Report
  • [Remarks] 自然科学研究機構新分野創成センターのHP

    • URL

      http://www.nins.jp/cnsi/

    • Related Report
      2016 Annual Research Report

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Published: 2016-04-21   Modified: 2020-03-30  

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