Jove
Visualize
お問い合わせ
JoVE
x logofacebook logolinkedin logoyoutube logo
JoVEについて
概要リーダーシップブログJoVEヘルプセンター
著者向け
出版プロセス編集委員会範囲と方針査読よくある質問投稿
図書館員向け
推薦の声購読アクセスリソース図書館諮問委員会よくある質問
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experimentsアーカイブ
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教員リソースセンター教員サイト
利用規約
プライバシーポリシー
ポリシー

関連する概念動画

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

462
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
462
Neural Circuits01:25

Neural Circuits

1.8K
Neural circuits and neuronal pools are two of the main structures found in the nervous system. Neural circuits are networks of neurons that work together to carry out a specific task or process. They consist of interconnected neurons and glial cells, which provide structural and metabolic support.
Neuronal pools are collections of nerve cells with similar functions and interact through chemical and electrical signals. These pools include both interneurons (the central neural circuit nodes that...
1.8K
Synteny and Evolution02:31

Synteny and Evolution

3.4K
John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral...
3.4K
Convergent Evolution01:54

Convergent Evolution

29.4K
Evolution shapes the features of organisms over time, ensuring that they are suited for the environments in which they live. Sometimes, selection pressure leads to the rise of similar but unrelated adaptations in organisms with no recent common ancestors, a process known as convergent evolution.
29.4K

こちらも読む

関連記事

共著者、ジャーナル、引用グラフによってこの研究に関連する記事。

並び替え
Same author

Hypothalamic specification in a dish.

Nature neuroscience·2026
Same author

Stereotyped positioning of olfactory receptors.

Nature neuroscience·2026
Same author

Screening for photoreceptor survival.

Nature neuroscience·2026
Same author

Single-cell eQTL mapping reveals convergent glial-neuronal risk architecture in Parkinson's disease.

bioRxiv : the preprint server for biology·2026
Same author

Multimodal analysis reveals cellular diversity and divergent circuits of the zona incerta.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same author

Concordant transcriptional and morphological remodeling revealed by <i>in vivo</i> Perturb-CLEAR.

bioRxiv : the preprint server for biology·2026

関連する実験動画

Updated: Oct 4, 2025

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
10:47

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Published on: March 2, 2018

10.1K

自閉症の遺伝子は,共有された神経細胞の非同期的な発達に収束する.

Bruna Paulsen1,2, Silvia Velasco3,4,5, Amanda J Kedaigle1,2,6

  • 1Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA.

Nature
|February 3, 2022
PubMed
まとめ

自閉症スペクトル障害 (ASD) リスク遺伝子は,人間の脳オーガノイドの非同期神経発達を引き起こす. これらの細胞特異的な欠陥は 個々の遺伝子の影響を受け 異常な回路活動につながり ASDにおける共通の神経生物学的な経路を明らかにします

さらに関連する動画

Osmotic Avoidance in Caenorhabditis elegans: Synaptic Function of Two Genes, Orthologues of Human NRXN1 and NLGN1, as Candidates for Autism
11:20

Osmotic Avoidance in Caenorhabditis elegans: Synaptic Function of Two Genes, Orthologues of Human NRXN1 and NLGN1, as Candidates for Autism

Published on: December 11, 2009

11.9K
Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies &#8212; Genetic Models and Behavioral Tests
08:30

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

2.0K

関連する実験動画

Last Updated: Oct 4, 2025

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
10:47

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Published on: March 2, 2018

10.1K
Osmotic Avoidance in Caenorhabditis elegans: Synaptic Function of Two Genes, Orthologues of Human NRXN1 and NLGN1, as Candidates for Autism
11:20

Osmotic Avoidance in Caenorhabditis elegans: Synaptic Function of Two Genes, Orthologues of Human NRXN1 and NLGN1, as Candidates for Autism

Published on: December 11, 2009

11.9K
Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies &#8212; Genetic Models and Behavioral Tests
08:30

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

2.0K

科学分野:

  • 神経科学
  • 遺伝学
  • 発達生物学

背景:

  • 自閉症スペクトル障害 (ASD) のリスクには,様々な機能を持つ何百もの遺伝子が含まれています.
  • これらの遺伝子変異によって引き起こされる特定の脳変異と変異性フェノタイプは完全に理解されていません.

研究 の 目的:

  • 3つのASDリスク遺伝子であるSUV420H1,ARID1B,CHD8におけるハプロイン不全から生じるヒト大脳皮質の発達異常を特定する.
  • ASDの病理学に対する現象的収束と個々のゲノム文脈の影響を調査する.

主な方法:

  • 複数の細胞系とドナーから得られた人間の脳皮質のオーガノイドモデルを使用した.
  • 745,000以上の細胞に単細胞RNA配列解析 (scRNA-seq) を実施した.
  • 個々のオルガノイドのプロテオミク解析とカルシウムイメージングを行い,回路の活性性を評価した.

主要な成果:

  • SUV420H1,ARID1B,CHD8におけるハプロイン不足は,GABAergicおよび深層刺激性投射ニューロンの非同期的な発達をもたらした.
  • それぞれの遺伝子には異なる分子経路が含まれており,フェノタイプの収束が観察されました.
  • 発達上の欠陥は細胞系にわたって一貫していたが,個々のゲノム文脈によって調節された.
  • 初期発達の変化は,オーガノイドモデルにおける異常な回路活動と相関する.

結論:

  • ASDのリスク遺伝子は 細胞型特異的な神経発達異常を引き起こす可能性があります
  • これらの異常はASDの病理に寄与する点で収束している.
  • 個々のゲノム的な文脈は ASDに関連する発達障害の表現性を大きく変化させる.