{"id":"hum0431","version":1,"url":"https://humandbs.dbcls.jp/research/hum0431/v1","datePublished":"2024-01-25","versions":[{"version":1,"datePublished":"2024-01-25"}],"title":{"ja":"精神神経疾患における病態生理・発症脆弱性・治療反応性等の解明、および新規治療法・診断予防法の開発を目指した遺伝子解析","en":"Genetic analysis aimed at elucidating the pathophysiology, vulnerability to onset, treatment responsiveness of neuropsychiatric disorders, and developing new treatments and diagnostic and preventive methods"},"summary":{"aims":{"ja":"統合失調症や気分障害（双極性障害、大うつ病性障害）、発達障害、てんかんなどの精神神経疾患の感受性遺伝子群の同定","en":"Identification of susceptibility gene clusters for neuropsychiatric disorders such as schizophrenia, mood disorders (bipolar disorder, major depressive disorder), developmental disorders, and epilepsy."},"methods":{"ja":"mRNA-seq解析","en":"RNA-seq analysis"},"targets":{"ja":"非罹患者由来iPS細胞（RIKEN BRC [HPS4290:201B7-Ff]）に自閉スペクトラム症患者で同定された変異をCRISPR/Cas9システムにより導入した遺伝子改変ヒトiPS細胞株（PAM配列上にも人為的変異を導入）\n1）変異株2検体（chr7:g.26200781C>T 変異とPAM配列上変異）\nコントロール株2検体（PAM配列上変異のみ導入）\n2）変異株3検体（chr22:g.19179942C>T変異とPAM配列上変異）\nコントロール株2検体（PAM配列上変異のみ導入）","en":"We introduced single variants identified in patients with Autism Spectrum Disorder (ASD) into human iPSCs (HPS4290:201B7-Ff]) using the CRISPR/Cas9 system. Variants at the protospacer adjacent motif (PAM) sequence were also introduced.\n1) Mutant iPSC lines with the chr7:g.26200781C>T variant and the single PAM sequence: 2 samples\nControl lines with a single PAM sequence: 2 samples\n2) Mutant iPSC lines with the chr22:g.19179942C>T variant and the single PAM sequence: 3 samples\nControl lines with a single PAM sequence: 2 samples"},"url":{"ja":[{"url":"https://mppd-takatalab.com/","text":"https://mppd-takatalab.com/"}],"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"自閉スペクトラム症患者で同定された変異を導入した遺伝子改変ヒトiPS細胞株：5検体\nコントロール遺伝子改変ヒトiPS細胞株：4検体\n（細胞株）","en":"human iPS cells introduced single variants identified in patients with ASD: 5 samples\ncontrol human iPS cells: 4 samples\n(Cell-line)"},"typeOfData":{"ja":"NGS\n（RNA-seq）","en":"NGS\n(RNA-seq)"}},"releaseNote":{"ja":"非罹患者由来iPS細胞（HPS4290:201B7-Ff）に自閉スペクトラム症患者で同定された変異を導入した遺伝子改変ヒトiPS細胞株およびコントロール改変ヒトiPS細胞株より抽出したRNAを用いたRNA-seq解析データをfastqファイルにて提供する。","en":"RNAs extracted from human iPSCs (HPS4290:201B7-Ff) introduced single variants identified in patients with ASD and controls were used for RNA-sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"髙田 篤","en":"Atsushi Takata"},"organization":{"name":{"ja":"理化学研究所・脳神経科学研究センター 分子精神病理研究チーム","en":"Laboratory for Molecular Pathology of Psychiatric Disorders, RIKEN Center for Brain Science"}}}],"researchProjects":[],"grants":[{"title":{"ja":"トリオサンプルのシーケンス解析による、遺伝子型によって定義される双極性障害の一群の同定","en":"Identification of genetically defined subgroups of bipolar disorder by sequence analysis of trio samples"},"agency":{"ja":"日本医療研究開発機構（AMED） 脳科学研究戦略推進プログラム","en":"Strategic Research Program for Brain Sciences, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20dm0107133"]},{"title":{"ja":"オリゴジェニックモデルに基づくヒト疾患の遺伝的構造の解析","en":"Analysis of the genetic architectures of human diseases based on the oligogenic model"},"agency":{"ja":"日本医療研究開発機構（AMED） ゲノム医療実現推進プラットフォーム事業 先端ゲノム研究開発","en":"Advanced Genome Research and Bioinformatics Study to Facilitate Medical Innovation (GRIFIN), Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22km0405214"]},{"title":{"ja":"双極性障害に対する体細胞変異の意義の解明と神経ゲノム病理学的手法の開発","en":"Analysis of somatic mutations in bipolar disorder and methodological development of genomic neuropathology"},"agency":{"ja":"日本医療研究開発機構（AMED） 戦略的国際脳科学研究推進プログラム","en":"The Strategic International Brain Science Research Promotion Program (Brain/MINDS Beyond), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20dm0307028"]},{"title":{"ja":"クラスタ/ハブ細胞を決定する遺伝子・鍵分子経路の特定およびヒト疾患との関連解析","en":"Identification of genes and key molecular pathways determining cluster/hub cells and analysis of their relationship to human diseases"},"agency":{"ja":"科学研究費助成事業 学術変革領域研究（B）","en":"KAKENHI Grant-in-Aid for Transformative Research Areas (B)"},"grantIds":["20H05777"]},{"title":{"ja":"双極性障害大規模シーケンス解析による稀な生殖細胞系列変異と体細胞変異の包括的研究","en":"Comprehensive study of rare germline and somatic mutations by large-scale sequence analysis for bipolar disorder"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["21H02855"]},{"title":{"ja":"エピジェネティック制御機能を有するメチル基転移酵素に着目した自閉症病態の解明","en":"Molecular pathological analysis of a histone methyltransferase associated with autism spectrum disorder"},"agency":{"ja":"科学研究費助成事業 若手研究","en":"KAKENHI Grant-in-Aid for Early-Career Scientists"},"grantIds":["21K15752"]},{"title":{"ja":"大規模家系ゲノムデータ解析によるDenovo遺伝子変異の父年齢効果関連遺伝子座の同定","en":"Identification of loci associated with paternal age effect of Denovo mutation by large-scale family genome data analysis"},"agency":{"ja":"科学研究費助成事業 研究活動スタート支援","en":"KAKENHI Grant-in-Aid for Research Activity Start-up"},"grantIds":["22K20751"]}],"relatedPublications":[{"title":"Topologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk","doi":"https://doi.org/10.1016/j.xgen.2024.100488","datasets":["JGAD000781"]}],"datasets":["JGAD000781"],"controlledAccessUsers":[]}