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Related Concept Videos

Mismatch Repair01:36

Mismatch Repair

Overview
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
Mutations01:35

Mutations

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...
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Mutations in Microorganisms01:18

Mutations in Microorganisms

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,...
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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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An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants
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Compensated deleterious mutations in insect genomes.

Rob J Kulathinal1, Brian R Bettencourt, Daniel L Hartl

  • 1Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.

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Amino acid interactions are crucial for evolution. Compensated mutations, even pathogenic ones, can rapidly fix in populations, suggesting selection drives this process.

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Area of Science:

  • Evolutionary biology
  • Genomics
  • Molecular evolution

Background:

  • The role of amino acid interactions in protein and phenotypic evolution is not well understood.
  • Epistasis, where one gene affects the expression of another, may influence the fixation of mutations.

Purpose of the Study:

  • To investigate if mutations pathogenic in Drosophila melanogaster become fixed through epistasis in other Dipteran genomes.
  • To understand the evolutionary dynamics of pathogenic amino acid substitutions.

Main Methods:

  • Comparative genomic analysis of Dipteran genomes.
  • Examination of amino acid site divergence, focusing on pathogenic sites identified in D. melanogaster.
  • Analysis of substitution patterns and their relationship with phylogenetic distance.

Main Results:

  • Overall divergence at pathogenic amino acid sites is reduced.
  • Approximately 10% of substitutions at these sites involve the same pathogenic amino acid found in D. melanogaster mutants, indicating compensatory evolution.
  • The proportion of these compensated substitutions is independent of phylogenetic distance.

Conclusions:

  • Compensatory mutations evolve to fix pathogenic amino acid substitutions.
  • Selection-driven processes facilitate the rapid fixation of compensated amino acid substitutions in large populations.
  • Amino acid interactions play a significant role in shaping evolutionary trajectories.