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Related Concept Videos

Mutations01:39

Mutations

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Overview
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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.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
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Viral Mutations00:36

Viral Mutations

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A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
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Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Mutations in Microorganisms01:18

Mutations in Microorganisms

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Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
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Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Conjunctival Commensal Isolation and Identification in Mice
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NF1 mutations in conjunctival melanoma.

S L Scholz1, I Cosgarea2, D Süßkind3

  • 1Department of Ophthalmology, University Hospital Essen, Hufelandstrasse 55, Essen, 45147, Germany. simone.scholz@uk-essen.de.

British Journal of Cancer
|March 22, 2018
PubMed
Summary
This summary is machine-generated.

Conjunctival melanoma genetics reveal frequent mutations in NF1, BRAF, and RAS genes, similar to skin melanomas. This genetic profiling aids in understanding therapeutic options for metastatic eye tumors.

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Area of Science:

  • Ophthalmology
  • Oncology
  • Genetics

Background:

  • Conjunctival melanoma is a dangerous eye tumor with frequent recurrence and metastasis despite treatment.
  • The underlying genetic factors of conjunctival melanoma are not well understood.

Purpose of the Study:

  • To investigate the genetic landscape of conjunctival melanoma.
  • To correlate genetic mutations with patient prognosis.

Main Methods:

  • Targeted next-generation sequencing was used to screen 63 conjunctival melanoma samples.
  • Analysis focused on mutations common in other melanoma subtypes.

Main Results:

  • Frequent mutations were found in genes activating the MAP kinase pathway.
  • NF1 mutations occurred in 33% of cases, BRAF in 25%, and RAS genes in 19%.

Conclusions:

  • Conjunctival melanomas can be genetically classified into four groups: BRAF-mutated, RAS-mutated, NF1-mutated, and triple wild-type.
  • This genetic classification may inform therapeutic strategies for metastatic conjunctival melanoma.