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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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Related Experiment Video

Updated: Jan 28, 2026

A Patient-Derived Xenograft Model for Venous Malformation
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Cortical malformations and COL4A1 mutation: Three new cases.

G Vitale1, A Pichiecchio2, F Ormitti3

  • 1Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|March 7, 2019
PubMed
Summary
This summary is machine-generated.

COL4A1 gene mutations can cause brain abnormalities. This study found that schizencephaly and polymicrogyria are part of the COL4A1 mutation phenotypic spectrum.

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Area of Science:

  • Neurogenetics
  • Developmental Neuroscience
  • Molecular Medicine

Background:

  • The COL4A1 gene encodes a key component of the basal membrane, and its mutations cause a multisystem disease.
  • Brain MRI in patients with COL4A1 mutations typically reveals vascular abnormalities and white matter lesions.
  • Recent findings suggest cortical malformations, such as schizencephaly, may also be part of the COL4A1 mutation phenotype.

Observation:

  • This study retrospectively reviewed MRI data from 18 individuals with COL4A1 mutations.
  • Polymicrogyria was identified in two patients.
  • Schizencephaly was observed in the mother of another patient.

Findings:

  • Cortical malformations are confirmed within the phenotypic spectrum of COL4A1 mutations.
  • Both schizencephaly and polymicrogyria can be observed in individuals with COL4A1 mutations.
  • The timing of brain damage may be critical in determining the type of cortical malformation.

Implications:

  • These findings expand the known spectrum of brain abnormalities associated with COL4A1 mutations.
  • Recognizing these malformations aids in diagnosing and understanding COL4A1-related disorders.
  • Further research is needed to elucidate the precise pathogenetic mechanisms underlying these diverse brain lesions.