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Related Concept Videos

Mutations in Microorganisms01:18

Mutations in Microorganisms

228
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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Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

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The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
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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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Mutations01:39

Mutations

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Overview
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Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

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Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
493
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

399
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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Quantifying the Mutational Robustness of Protein-Coding Genes.

Evandro Ferrada1

  • 1Instituto de Sistemas Complejos de Valparaíso (ISCV), Artillería 470, Cerro Artillería, Valparaíso, Chile. evandro.ferrada@gmail.com.

Journal of Molecular Evolution
|May 2, 2021
PubMed
Summary
This summary is machine-generated.

Protein-coding genes exhibit significant mutational robustness, with neutral variants ranging from 50% to 75%. This robustness is influenced by protein function, genetic code, and stability constraints.

Keywords:
Genetic codeLarge-scale mutagenesisMutational robustnessProteins

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Area of Science:

  • Molecular Biology
  • Computational Biology
  • Genetics

Background:

  • Mutational robustness is crucial for protein evolution and function.
  • Understanding the factors influencing mutational robustness is key to predicting evolutionary trajectories.

Purpose of the Study:

  • To quantify the mutational robustness of protein-coding genes.
  • To investigate the impact of protein function and genetic code constraints on mutational robustness.

Main Methods:

  • Analysis of large-scale mutagenesis data from 18 studies.
  • Computer simulations using a lattice protein model.
  • Biophysical modeling of protein-ligand binding.

Main Results:

  • Observed an average of 45% neutral variants in natural proteins, and 60% in designed proteins.
  • Simulations showed unbiased foldable sequences have 30% neutral variants, while maximally robust families reach 60%.
  • Protein function constraints impact robustness by 5-10%, while the genetic code adds 15-20% neutral variants.

Conclusions:

  • Expected, observed, and maximal robustness of protein-coding genes are approximately 50%, 65%, and 75%, respectively.
  • Discussed findings in the context of existing hypotheses for the evolution of mutational robustness.