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Related Concept Videos

Mutations01:39

Mutations

Overview
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...
Epigenetic Regulation01:37

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
Epigenetic Regulation01:46

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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

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Related Experiment Video

Updated: Jun 27, 2026

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
05:48

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

Published on: March 16, 2022

Germline epimutation in humans.

Jennifer E Cropley1, David I K Martin, Catherine M Suter

  • 1Molecular Genetics Division, Victor Chang Cardiac Research Institute, Sydney, Australia.

Pharmacogenomics
|December 17, 2008
PubMed
Summary
This summary is machine-generated.

Germline epimutations, which are reversible gene silencing events without genetic defects, can mimic genetic diseases. This review focuses on MLH1 epimutations and their human implications.

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Area of Science:

  • Genetics
  • Epigenetics
  • Molecular Biology

Background:

  • Epigenetic modifications regulate gene transcription heritably and reversibly.
  • Epimutations, or errors in epigenetic regulation, cause abnormal gene silencing.
  • These epimutations can occur somatically, particularly in tumors, or in the germline.

Purpose of the Study:

  • To review recent findings on germline epimutation of the MLH1 tumor suppressor gene.
  • To discuss the potential causes and implications of germline epimutations in humans.

Main Methods:

  • Literature review of recent findings on germline epimutation.
  • Analysis of the role of MLH1 epimutation in human disease.

Main Results:

  • Germline epimutations can lead to widespread gene silencing.
  • Epimutations in MLH1 can phenocopy genetic diseases.
  • Epimutations can arise without underlying genetic defects.

Conclusions:

  • Germline epimutations are a significant factor in gene regulation and disease.
  • Understanding MLH1 germline epimutation is crucial for human health.
  • Further research into the etiology and implications of germline epimutations is warranted.