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相关概念视频

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...
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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...
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Leaky Scanning02:28

Leaky Scanning

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During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA.  Marilyn Kozak discovered that the sequence RCCAUGG (where R...
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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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Mutations01:39

Mutations

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Overview
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Ribosome Profiling02:24

Ribosome Profiling

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Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
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Updated: Jun 8, 2025

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
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Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

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替代性转录重新编码人类基因以表达重叠的,框架移动的微蛋白质.

Haomiao Su1,2, Samuel G Katz3, Sarah A Slavoff1,2,4

  • 1Department of Chemistry, Yale University, New Haven, CT 06520, USA.

bioRxiv : the preprint server for biology
|November 1, 2024
PubMed
概括
此摘要是机器生成的。

人类基因可以通过替代转录来表达来自内部开放阅读框架 (iORF) 的隐藏微蛋白. 这一发现揭示了人类转录组和蛋白质组的新复杂性,挑战了以前关于基因表达的假设.

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科学领域:

  • 基因组学和转录基因组学
  • 分子生物学分子生物学
  • 人类基因表达方式

背景情况:

  • 内部开放式阅读框架 (iORFs) 之前被认为在人类基因组中很少见.
  • 人类iORFs的功能意义和表达在很大程度上仍未被描述.
  • 标注编码序列 (CDS) 被认为是人类基因的主要功能单位.

研究的目的:

  • 调查功能性人类iORFs的存在和表达.
  • 开发用于识别和验证来自替代转录的iORF表达的方法.
  • 探索iORF表达对基因活动的功能影响.

主要方法:

  • 开发一种新的生物信息学管道,用于将翻译的iORF分配给替代的转录.
  • 利用长读测序进行转录基因分析和验证.
  • 进行了分子验证实验,以确认人类基因中的iORF表达.

主要成果:

  • 确定了数百个案例,其中替代转录重新编程人类基因以表达iORF编码的微蛋白.
  • 证明了许多非编码替代转录的注释很差,但可以导致iORF翻译.
  • 通过测序和分子技术验证了众多人类iORFs的表达.
  • 展示了一种保存的DEDD2iORF,该iORF改变了基因功能,从亲亡的转变为反亡的.

结论:

  • 替代性转录变异通过使iORF表达能够显著扩大人类基因组的编码潜力.
  • 这种机制揭示了人类转录组和蛋白质组中以前未知的复杂层.
  • iORF表达可以功能性地重编程基因,以DEDD2基因为例.