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Related Concept Videos

Mutations01:39

Mutations

Overview
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Genome Copying Errors02:46

Genome Copying Errors

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.
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Renewal of Intestinal Stem Cells01:23

Renewal of Intestinal Stem Cells

The intestinal epithelial lining rapidly renews every 4 to 5 days. The renewal is facilitated by intestinal stem cells (ISCs) located at the base of the crypt– a gland located at the bottom of each villus. ISCs divide asymmetrically to form new stem cells and progenitor daughter cells. The daughter cells are called transit-amplifying (TA) cells which move upwards along the crypt and either differentiate into absorptive cells– the enterocytes or secretory cells– including the goblet,...
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).

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Related Experiment Video

Updated: Jul 12, 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

Mitochondrial DNA mutations in human colonic crypt stem cells.

Robert W Taylor1, Martin J Barron, Gillian M Borthwick

  • 1Department of Neurology, The Medical School, University of Newcastle upon Tyne, United Kingdom.

The Journal of Clinical Investigation
|November 5, 2003
PubMed
Summary

Mitochondrial DNA (mtDNA) mutations accumulate in colonic stem cells, causing biochemical defects. This finding impacts understanding of aging, cancer, and mutation frequency within cells.

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Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
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Quantification of Colonic Stem Cell Mutations
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Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Published on: March 17, 2023

Area of Science:

  • Genetics
  • Cell Biology
  • Evolutionary Biology

Background:

  • The mitochondrial genome (mtDNA) encodes key respiratory chain proteins and exhibits uniparental inheritance.
  • mtDNA exhibits high sequence divergence and plays a role in human evolutionary studies.
  • Pathogenic mtDNA mutations are linked to neurological diseases, with both inherited and sporadic occurrences.

Purpose of the Study:

  • To investigate the phenomenon of accumulated mitochondrial DNA mutations in human colonic crypt stem cells.
  • To determine the consequences of these mutations on cellular progeny and biochemical function.
  • To explore the implications for aging, cancer development, and cellular mutation frequency.

Main Methods:

  • Analysis of mitochondrial DNA sequence divergence in human populations.
  • Investigation of pathogenic mitochondrial DNA mutations in disease contexts.
  • Observation of accumulated mitochondrial DNA mutations in colonic crypt stem cells.

Main Results:

  • Mitochondrial DNA mutations accumulate in human colonic crypt stem cells.
  • This accumulation leads to significant biochemical defects in the progeny of these cells.
  • The findings suggest mtDNA mutations occur frequently.

Conclusions:

  • Accumulation of mitochondrial DNA mutations in colonic stem cells is a significant phenomenon.
  • This process has implications for understanding mtDNA mutations in aging tissues and tumors.
  • The study provides insights into the frequency of mitochondrial DNA mutations within cells.