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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
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Mismatch Repair01:36

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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...
Mutations01:39

Mutations

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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...

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Related Experiment Video

Updated: Jun 8, 2026

Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells
06:09

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Published on: June 7, 2019

Frequent MAGE mutations in human melanoma.

Otavia L Caballero1, Qi Zhao, Donata Rimoldi

  • 1Ludwig Institute for Cancer Research Ltd, New York Branch at Memorial Sloan-Kettering Cancer Center, New York, New York, USA. ocaball1@jhmi.edu

Plos One
|September 24, 2010
PubMed
Summary

Melanoma tumors frequently harbor mutations in Cancer/testis (CT) X-chromosome (CT-X) MAGE genes. This study reveals MAGE gene mutations in 37% of melanoma cell lines and 32% of patient samples.

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Cancer/testis (CT) genes, predominantly X-chromosome located (CT-X), are expressed in germ cells and tumors.
  • MAGE protein families are among the best-studied CT-X genes, with potential roles in tumorigenesis.
  • The precise functions of MAGE proteins remain largely unelucidated.

Purpose of the Study:

  • To investigate the frequency and spectrum of mutations within coding regions of specific CT-X MAGE genes in human melanoma.
  • To analyze MAGE gene mutations in both established melanoma cell lines and primary tumor samples.

Main Methods:

  • Mutational analysis of MAGEA1, MAGEA4, MAGEC1, MAGEC2, and MAGEE1 coding regions.
  • Examination of DNA from 27 melanoma patient-derived cell lines and matched blood samples.
  • Analysis of DNA from 111 fresh melanoma samples from 86 patients.

Main Results:

  • Mutations in at least one MAGE gene were identified in 37% of melanoma cell lines.
  • Individual MAGE gene mutation frequencies in cell lines ranged from 3.7% (MAGEA1/MAGEA4) to 14.8% (MAGEC2).
  • Mutations in one or more MAGE genes were found in 32% of fresh melanoma samples, with frequencies from 6% (MAGEA1) to 16% (MAGEC1).

Conclusions:

  • This study provides the first evidence of frequent MAGE gene family mutations in melanoma.
  • The findings highlight the potential significance of MAGE gene alterations in melanoma development or progression.