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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
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Calmodulin-dependent Signaling01:16

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Calmodulin (CaM) is a calcium-binding protein in eukaryotes that controls various calcium-regulated cellular processes. It has four calcium-binding sites that bind calcium to form the calcium-calmodulin ( Ca2+-CaM) complex. GPCR stimulation increases the calcium levels in the cells that bind to CaM and induces a conformational change.
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Viral Mutations00:36

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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

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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

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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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Pull-down of Calmodulin-binding Proteins
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Human Calmodulin Mutations.

Helene H Jensen1, Malene Brohus1, Mette Nyegaard2

  • 1Section for Biotechnology, Department of Chemistry and Bioscience, Aalborg University, Aalborg, Denmark.

Frontiers in Molecular Neuroscience
|November 29, 2018
PubMed
Summary

Mutations in calmodulin (CaM) cause severe cardiac arrhythmias by impairing calcium signaling. Research reviews identified CaM variants, their effects on cardiac ion channels, and disease phenotypes, opening new questions.

Keywords:
CALM1CALM2CALM3CPVTLQTScalmodulincalmodulinopathycardiac arrhythmia

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Area of Science:

  • Molecular Biology
  • Cardiology
  • Genetics

Background:

  • Calcium (Ca2+) signaling is vital for cellular function, with calmodulin (CaM) acting as a key sensor.
  • Despite high conservation, human CaM mutations are linked to severe cardiac arrhythmias.
  • Three functional human CaM genes (CALM1-3) encode identical proteins.

Purpose of the Study:

  • To review identified CaM variants and their impact on cardiac disease.
  • To discuss the consequences of CaM mutations on target protein regulation.
  • To explore potential non-cardiac phenotypes and open research questions.

Main Methods:

  • Review of existing literature on CaM mutations.
  • Analysis of biochemical studies on CaM variant function.
  • Correlation of patient genotypes with cardiac phenotypes.

Main Results:

  • Over a dozen CaM missense mutations identified in patients with cardiac arrhythmias.
  • Demonstrated differential Ca2+ binding affinities and impaired regulation of cardiac ion channels (CaV1.2, RyR2).
  • Emerging evidence suggests potential for non-cardiac phenotypes.

Conclusions:

  • CaM mutations disrupt critical calcium signaling pathways in the heart.
  • Understanding CaM variant complexity is crucial for diagnosing and treating cardiac arrhythmias.
  • Further research is needed to fully elucidate CaM's role in health and disease.