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相关概念视频

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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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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Chromatin Structure Regulates pre-mRNA Processing02:41

Chromatin Structure Regulates pre-mRNA Processing

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In eukaryotic cells, nascent mRNA transcripts need to undergo many post-transcriptional modifications to reach the cell cytoplasm and translate into functional proteins. For a long time, transcription and pre-mRNA processing were considered two independent events that occur sequentially in the cell. However, it has now been well established that transcription and pre-mRNA processing are two simultaneous processes that are precisely regulated inside the cell.
The chromatin structure, especially...
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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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What is Gene Expression?01:36

What is Gene Expression?

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A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised  of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then...
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Cell Specific Gene Expression01:58

Cell Specific Gene Expression

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Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
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相关实验视频

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Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

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Sox9调节了替代拼接和胰腺β细胞功能.

Sapna Puri1,2, Hasna Maachi1,3,4,5,6, Gopika Nair1,7

  • 1Diabetes Center, Department of Medicine, University of California, San Francisco, CA, USA.

Nature communications
|January 18, 2024
PubMed
概括

Sox9对于成熟的β细胞功能和胰岛素分泌至关重要. Sox9的损失会损害葡萄糖耐受性,并破坏替代拼接,为2型糖尿病机制提供了新的见解.

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科学领域:

  • 内分泌学 在内分泌学.
  • 分子生物学分子生物学
  • 遗传学 遗传学 是一个

背景情况:

  • 在2型糖尿病 (T2D) 中岛屿β细胞衰竭的机制仍在研究中.
  • 一种已知的胰腺发育调节剂Sox9,在成熟的β细胞中具有潜在的作用.

研究的目的:

  • 为了研究Sox9在成熟的小岛贝塔细胞中的功能.
  • 为了确定Sox9枯竭对β细胞功能和葡萄糖恒温的影响.
  • 阐明Sox9影响β细胞功能的分子机制.

主要方法:

  • 动物β细胞中的Sox9枯竭.
  • 在人类干细胞中进行基因组编辑,以创建缺乏SOX9的β细胞.
  • 对胰岛素分泌,葡萄糖耐受性和基因替代拼接的分析.

主要成果:

  • 在老年动物中,sox9枯竭的β细胞表现出缺陷的胰岛素分泌和受损的葡萄糖耐受性.
  • 人类β细胞中的SOX9缺乏导致缩的第一阶段胰岛素分泌.
  • Sox9的损失破坏了替代拼接,导致非功能性基因异型和减少SRSF5表达.

结论:

  • 在成熟的小岛贝塔细胞的功能中,Sox9起着至关重要的作用.
  • Sox9调节了替代拼接,影响了参与β细胞功能的关键基因.
  • Sox9-介导的替代拼接的失调与2型糖尿病的发病有关.