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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
Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
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...
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...

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Related Experiment Video

Updated: May 22, 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

Recurrent and founder mutations in the PMS2 gene.

J Tomsic1, L Senter, S Liyanarachchi

  • 1Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA.

Clinical Genetics
|May 15, 2012
PubMed
Summary
This summary is machine-generated.

Founder mutations in PMS2, a gene linked to Lynch syndrome (hereditary colorectal cancer), are common. Two specific PMS2 mutations (c.137G>T and exon 10 deletion) were confirmed as founder mutations, explaining their frequent occurrence in unrelated individuals.

Related Experiment Videos

Last Updated: May 22, 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

Area of Science:

  • Genetics
  • Cancer Genomics
  • Hereditary Cancer Syndromes

Background:

  • Germline mutations in PMS2 are a significant cause of Lynch syndrome, a hereditary cancer predisposition.
  • Accurate detection of PMS2 mutations is challenging due to homologous pseudogenes.
  • Previous studies identified numerous PMS2 mutations, with several occurring recurrently in unrelated individuals.

Purpose of the Study:

  • To investigate the origin of recurrent PMS2 mutations observed in Lynch syndrome patients.
  • To differentiate between recurrent, de novo, and founder mutations in PMS2.
  • To understand the genetic architecture contributing to Lynch syndrome prevalence.

Main Methods:

  • Utilized a custom long-range PCR strategy for PMS2 mutation detection.
  • Performed genotyping and haplotype analysis on PMS2 mutations found in multiple probands.
  • Evaluated four specific PMS2 mutations for founder effects.

Main Results:

  • Two PMS2 mutations (c.137G>T and exon 10 deletion) were identified as founder mutations.
  • One PMS2 mutation (c.903G>T) was classified as a probable founder mutation.
  • Founder mutations account for a substantial proportion of PMS2-related Lynch syndrome cases.

Conclusions:

  • Founder effects play a significant role in the observed frequency of certain PMS2 mutations.
  • Understanding founder mutations is crucial for genetic counseling and Lynch syndrome screening.
  • Further research is needed to elucidate the mechanisms behind frequent founder mutations in PMS2.