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Related Concept Videos

The Ras Gene02:38

The Ras Gene

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The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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The Ras Gene02:38

The Ras Gene

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Small GTPases - Ras and Rho01:24

Small GTPases - Ras and Rho

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Ras and Rho are small monomeric GTPases that act downstream of receptor tyrosine kinase (RTK) and regulate various cellular processes. These GTPases switch between active and inactive states by binding to guanine nucleotides.
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Mutations01:35

Mutations

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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.
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Related Experiment Video

Updated: Mar 20, 2026

Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells
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RASopathy Gene Mutations in Melanoma.

Ruth Halaban1, Michael Krauthammer2

  • 1Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA.

The Journal of Investigative Dermatology
|May 29, 2016
PubMed
Summary

Melanoma harbors mutations found in RASopathies, a group of genetic disorders. These mutations activate the RAS/mitogen-activated protein kinase pathway, contributing to melanoma development and potentially acting synergistically.

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Next-generation sequencing (NGS) has identified high-frequency driver genes in melanoma.
  • Less common mutations in melanoma are linked to genetic disorders known as RASopathies.

Purpose of the Study:

  • To investigate the overlap between RASopathy-associated mutations and melanoma.
  • To explore the role of these shared mutations in melanoma development and pathway activation.

Main Methods:

  • Comparative analysis of large-scale melanoma sequencing data.
  • Review of existing literature on RASopathies and melanoma genetics.
  • Examination of amino acid substitutions in RAS/mitogen-activated protein kinase (MAPK) pathway genes.

Main Results:

  • Significant overlap identified between RASopathy mutations and those found in melanoma.
  • Evidence suggests these mutations activate the RAS/MAPK pathway in melanoma.
  • Co-occurrence of multiple RASopathy mutations in melanoma was observed, potentially enhancing pathway activation.

Conclusions:

  • Mutations typically associated with RASopathies play a role in melanoma pathogenesis.
  • The RAS/MAPK pathway is a key target in understanding melanoma driven by these mutations.
  • Synergistic effects of co-occurring RASopathy mutations may accelerate melanoma progression.