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相关概念视频

Alternative RNA Splicing02:18

Alternative RNA Splicing

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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RNA Splicing01:32

RNA Splicing

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Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
56.4K
Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Exon Recombination02:32

Exon Recombination

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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
3.6K
Nucleosome Remodeling02:54

Nucleosome Remodeling

9.2K
Nucleosomes are the basic units of chromatin compaction. Each nucleosome consists of the DNA bound tightly around a histone core, which makes the DNA inaccessible to DNA binding proteins such as DNA polymerase and RNA polymerase. Hence, the fundamental problem is to ensure access to DNA when appropriate, despite the compact and protective chromatin structure.
Nucleosome remodeling complex
Eukaryotic cells have specialized enzymes called ATP-dependent nucleosome remodeling enzymes. These enzymes...
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Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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相关实验视频

Updated: Jul 11, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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结合细胞组的故障会导致神经发育障碍,并具有重叠的特征.

Dong Li1,2,3, Qin Wang4, Allan Bayat5,6,7

  • 1Center for Applied Genomics, and.

The Journal of clinical investigation
|November 14, 2023
PubMed
概括

三种拼接因子的致病变体U2AF2,PRPF19和RBFOX1,导致神经发育障碍 (NDD). 这项研究揭示了对人类大脑发育和功能至关重要的遗传网络.

关键词:
发展发展发展 发展发展遗传性疾病是一种遗传性疾病.遗传学 遗传学 是一个神经发育 神经发育iPS 细胞 细胞 iPS 细胞

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Investigating Protein-protein Interactions in Live Cells Using Bioluminescence Resonance Energy Transfer
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Investigating Protein-protein Interactions in Live Cells Using Bioluminescence Resonance Energy Transfer

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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相关实验视频

Last Updated: Jul 11, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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Investigating Protein-protein Interactions in Live Cells Using Bioluminescence Resonance Energy Transfer
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科学领域:

  • 遗传学 遗传学 是一个
  • 神经科学是一个神经科学.
  • 分子生物学分子生物学

背景情况:

  • 预mRNA剪接对神经功能至关重要,但其在神经发育障碍 (NDD) 中的作用尚未完全理解.
  • 拼接机械的调节不良越来越多地与神经系统缺陷有关.

研究的目的:

  • 调查结合体子单元在NDD中的作用.
  • 识别与NDD相关的拼接因子中的遗传变异.
  • 阐明在大脑发育中的拼接因子功能障碍背后的分子机制.

主要方法:

  • 在患有NDD的个体中识别和描述U2AF2和PRPF19的de novo变异.
  • 使用模型基质和人类多能干细胞衍生的神经元的功能性测试.
  • 利用Drosophila melanogaster模型来评估正义基因变异对神经发育和行为的影响.
  • 转录组概况和临床外体组数据的重新分析.

主要成果:

  • 在U2AF2和PRPF19中确定了许多与NDD相关的de novo误解变异.
  • 证明U2AF2变种会损害人类神经元的拼接并减少神经元发生.
  • 在U2af50和Prp19中功能丧失的多索菲拉模型表现出致死性,异常的大脑模式和社会缺陷.
  • 确定了RBFOX1作为第三个NDD引起的拼接因子,确定了显示功能丧失的变体.

结论:

  • U2AF2,PRPF19和RBFOX1被认为是导致NDD的新型基因.
  • 这些发现建立了一个基因网络,具有对人类大脑发育至关重要的层次结构.
  • 这项研究强调了mRNA前拼接在神经发育中的关键作用.