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Related Concept Videos

CRISPR/Cas9 Genome Editing01:28

CRISPR/Cas9 Genome Editing

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The CRISPR-Cas system serves as a bacterial defense mechanism against invading genetic elements such as viruses and plasmids, forming the foundation for its adaptation as a powerful genome-editing tool. Originally discovered in prokaryotes, this system has been repurposed to revolutionize genetic engineering across a wide range of organisms, including plants, animals, and humans. The core component, Cas9, is an endonuclease derived from Streptococcus pyogenes, capable of introducing...
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Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...
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Bacteria and archaea are susceptible to viral infections just like eukaryotes; therefore, they have developed a unique adaptive immune system to protect themselves. Clustered regularly interspaced short palindromic repeats and CRISPR-associated proteins (CRISPR-Cas) are present in more than 45% of known bacteria and 90% of known archaea.
The CRISPR-Cas system stores a copy of foreign DNA in the host genome and uses it to identify the foreign DNA upon reinfection. CRISPR-Cas has three different...
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The basic reaction of homologous recombination (HR) involves two chromatids that contain DNA sequences sharing a significant stretch of identity. One of these sequences uses a strand from another as a template to synthesize DNA in an enzyme-catalyzed reaction. The final product is a novel amalgamation of the two substrates. To ensure an accurate recombination of sequences, HR is restricted to the S and G2 phases of the cell cycle. At these stages, the DNA has been replicated already and the...
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Updated: Nov 16, 2025

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
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CRISPR base editor screens identify variant function at scale.

Phoebe C R Parrish1, Alice H Berger1

  • 1Human Biology Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA; Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.

Molecular Cell
|February 19, 2021
PubMed
Summary
This summary is machine-generated.

CRISPR base editing efficiently identifies gene variants affecting protein function in large-scale human cell screens. This technology aids in understanding protein structure and interpreting clinical variants.

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Area of Science:

  • Molecular Biology
  • Genetics
  • Biotechnology

Background:

  • CRISPR base editing is a powerful tool for precise DNA modification.
  • Large-scale pooled screens are essential for high-throughput genetic studies.
  • Understanding gene variants is crucial for both basic research and clinical applications.

Purpose of the Study:

  • To demonstrate the utility of CRISPR base editing in large-scale pooled screens.
  • To discover novel loss- and gain-of-function variants in human cells.
  • To provide insights into protein structure/function relationships and clinical variant interpretation.

Main Methods:

  • Utilized CRISPR base editing technology for targeted DNA modifications.
  • Performed large-scale pooled screens in human cell lines.
  • Analyzed screening data to identify functional genetic variants.

Main Results:

  • Successfully identified numerous loss- and gain-of-function variants.
  • Demonstrated the capability of CRISPR base editing to uncover variant effects.
  • Generated data supporting protein structure and function insights.

Conclusions:

  • CRISPR base editing in pooled screens is a viable strategy for variant discovery.
  • This approach enhances understanding of protein structure and function.
  • Facilitates the interpretation of clinically relevant genetic variants.