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Related Concept Videos

Mismatch Repair01:20

Mismatch Repair

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.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Mismatch Repair01:36

Mismatch Repair

Overview
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...

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Related Experiment Video

Updated: Jun 9, 2026

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
28:15

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

Published on: July 28, 2010

Novel African American Colorectal Cancer MSH3 Variants Associate With Major Genomic Instability.

Mudasir Rashid1, Hassan Brim1, Shaolei Teng2

  • 1Department of Medicine and Cancer Center, Howard University College of Medicine, Washington, DC, USA, howard.edu.

Human Mutation
|June 8, 2026
PubMed
Summary

Pathogenic MSH3 variants increase colorectal cancer (CRC) risk. While MSH3 variants did not affect cell growth, they caused bidirectional short tandem repeat instability, highlighting MSH3's role in genomic integrity.

Keywords:
African AmericansCRISPR-Cas9DNA mismatch repairMSH2MSH3benchworkcolorectal cancergenetic variantin silicopoint mutation

More Related Videos

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Related Experiment Videos

Last Updated: Jun 9, 2026

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
28:15

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

Published on: July 28, 2010

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Area of Science:

  • Genetics
  • Cancer Biology
  • Molecular Biology

Background:

  • Pathogenic variants in DNA mismatch repair genes, like MSH3, are implicated in colorectal cancer (CRC) development.
  • MSH3 variants were identified in African American (AA) CRC patients, prompting functional investigation.

Purpose of the Study:

  • To assess the functional significance of identified MSH3 variants using in silico and in vitro methods.
  • To correlate computational predictions with experimental outcomes for MSH3 variants in CRC.

Main Methods:

  • CRISPR-Cas9 was used to knock in MSH3 variants into a CRC cell line (SW620).
  • Assays included cell proliferation, microsatellite instability, whole genome sequencing, immunofluorescence, Western blot, and coimmunoprecipitation.
  • Sanger sequencing confirmed gene editing, and computational analyses predicted variant impact.

Main Results:

  • Knock-in of MSH3 variants (Exons 21, 22, 23) did not alter cell morphology, proliferation, or MSH2 binding.
  • No changes in microsatellite instability were observed at canonical loci.
  • Significant bidirectional short tandem repeat (STR) instability, particularly with tetranucleotide repeats, was detected across various genes.

Conclusions:

  • MSH3 variants contribute to genomic instability through bidirectional STR alterations, independent of canonical microsatellite instability.
  • These findings emphasize MSH3's role in maintaining genome integrity beyond established mismatch repair pathways.
  • The study provides insights into the mutational landscape of MMR-deficient tumors and potential implications for AA CRC patients.