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Related Concept Videos

CRISPR01:59

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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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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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DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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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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Mismatch Repair01:20

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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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Correction of Heritable Epigenetic Defects Using Editing Tools.

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  • 1Stem Cell Research Laboratory, Medical Genetics Institute Shaare Zedek Medical Center, Jerusalem 91031, Israel.

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Epimutations, errors in epigenetic marks, cause inherited diseases. Editing tools offer potential to correct these defects and understand epigenetic mechanisms for disease treatment.

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Area of Science:

  • Genetics
  • Epigenetics
  • Molecular Biology

Background:

  • Epimutations are errors in epigenetic mark establishment or maintenance within chromatin.
  • These errors lead to gene mis-expression and are often linked to inherited genetic mutations, causing human diseases.
  • Studying epimutations provides insights into disease development and epigenetic regulation.

Purpose of the Study:

  • To review current applications of epigenetic editing tools for epigenetically regulated diseases.
  • To understand the molecular basis of epigenetic mechanisms and disease development.
  • To identify limitations and future directions for epigenetic editing research.

Main Methods:

  • Review of existing literature on epigenetic editing tools.
  • Focus on applications targeting repetitive elements in epigenetically regulated diseases.
  • Analysis of reported efforts, contributions, and limitations of each approach.

Main Results:

  • Current data on epigenetic editing is primarily limited to repetitive elements.
  • Various editing tools show promise in addressing epigenetic defects.
  • Efforts have contributed to understanding the molecular basis of epigenetic mechanisms.

Conclusions:

  • Epigenetic editing tools are valuable for studying and potentially correcting epimutations.
  • Further exploration is needed to overcome limitations and expand applications.
  • This field holds promise for understanding and treating genetically inherited conditions.