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Related Concept Videos

MicroRNAs01:22

MicroRNAs

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MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
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MicroRNAs01:22

MicroRNAs

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MicroRNA (miRNA) are short, regulatory RNA transcribed from introns—non-coding regions of a gene—or intergenic regions—stretches of DNA present between genes. Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After...
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Regulation of Expression Occurs at Multiple Steps02:24

Regulation of Expression Occurs at Multiple Steps

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Gene expression can be regulated at almost every step from gene to protein. Transcription is the step that is most commonly regulated. This involves the binding of proteins to short regulatory sequences on the DNA. This association can either promote or inhibit the transcription of a gene associated with the respective sequence.
Transcription results in the generation of precursor (pre-mRNA) that consists of both exons and introns, which needs further processing before being translated to a...
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Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

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The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
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Translation01:31

Translation

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
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Translation01:31

Translation

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Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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A Reporter Assay to Analyze Intronic microRNA Maturation in Mammalian Cells
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Structural insights into disease-associated mutations in the microRNA processing machinery.

Hansol Lee1,2,3,4, Jaehyun Lee5,6, Soung-Hun Roh7,8

  • 1School of Biological Sciences, Seoul National University, Seoul, Republic of Korea. leehansol@korea.ac.kr.

Experimental & Molecular Medicine
|March 6, 2026
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Summary
This summary is machine-generated.

Mutations in microRNA (miRNA) processing proteins like DROSHA and DICER disrupt gene silencing, causing developmental disorders and cancers. Structural biology insights are key to understanding these diseases and developing therapies.

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Area of Science:

  • Molecular Biology
  • Genetics
  • Structural Biology

Background:

  • MicroRNAs (miRNAs) are crucial regulators of gene expression, mediating post-transcriptional gene silencing.
  • The miRNA biogenesis pathway involves key proteins: DROSHA, DICER, and Argonaute.
  • Dysregulation of this pathway is linked to various human diseases.

Purpose of the Study:

  • To review the structural basis of pathogenic mutations in miRNA biogenesis proteins.
  • To elucidate how these mutations impair miRNA processing and lead to disease.
  • To discuss the role of structural biology in understanding and treating RNA interference-related disorders.

Main Methods:

  • Analysis of genetic and structural studies on DROSHA, DICER, and Argonaute proteins.
  • Examination of disease-associated mutations within catalytic centers and RNA-binding interfaces.
  • Integration of structural biology insights with disease mechanisms.

Main Results:

  • Mutations disrupt RNA cleavage fidelity, domain stability, and small RNA loading.
  • Specific mutations in DROSHA and DICER are linked to Wilms tumor, DICER1 syndrome, and other pathologies.
  • Structural insights reveal precise mechanisms of impaired miRNA biogenesis.

Conclusions:

  • Pathogenic mutations in miRNA biogenesis machinery contribute to significant human diseases.
  • Structural biology provides critical understanding of these disease mechanisms.
  • Emerging structural insights are guiding the development of targeted therapeutic strategies.