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Related Concept Videos

Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
DNA-only Transposons02:57

DNA-only Transposons

DNA-only transposons are called autonomous transposons since they code for the enzyme transposase that is required for the transposition mechanism. Insertion of transposons can alter gene functions in multiple ways. They can mutate the gene, alter gene expression by introducing a novel promoter or insulator sequence, introduce new splice sites, and change the mRNA transcripts produced, or remodel chromatin structure.
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Transposons make up a significant part of genomes of various organisms. Therefore, it is believed that transposition played a major evolutionary role in speciation by changing genome sizes and modifying gene expression patterns. For example, in bacteria, transposition can lead to conferring antibiotic resistance. Movement of transposable elements within the genetic pool of pathogenic bacteria can aid in transfer of antibiotic-resistant genetic elements. In eukaryotes, transposons can carry out...
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Synteny and Evolution

John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
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Gene Evolution - Fast or Slow?

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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Gene Evolution - Fast or Slow?

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Related Experiment Video

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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

Insertion and deletion processes in recent human history.

Per Sjödin1, Thomas Bataillon, Mikkel H Schierup

  • 1Bioinformatics Research Center, C. F. Møllers Alle, Arhus, Denmark. persj@cs.au.dk

Plos One
|January 26, 2010
PubMed
Summary

Deletions are more harmful than insertions in the human genome, though both genetic changes share similar underlying genomic factors. This study analyzed human and primate data to understand insertion-deletion (indel) processes.

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Area of Science:

  • Genomics
  • Population Genetics
  • Molecular Evolution

Background:

  • Insertions and deletions (indels) are significant drivers of genetic variation but are understudied due to typing and alignment challenges.
  • The fundamental processes governing insertions and deletions remain poorly understood, prompting investigation into their similarities and differences.

Purpose of the Study:

  • To investigate the distinct evolutionary processes shaping insertions and deletions in the human genome.
  • To compare patterns of polymorphic indels within humans to those fixed since human-chimpanzee divergence.

Main Methods:

  • Utilized published resequencing data from human polymorphism databases (Seattle SNPs, NIEHS).
  • Constructed a genomewide dataset of polymorphic short insertions and deletions (n=6228) and fixed indels (n=10,546) since human-chimpanzee divergence.
  • Employed macaque genome data to differentiate between insertions and deletions.

Main Results:

  • The ratio of deletions to insertions is higher in humans than between humans and chimpanzees.
  • Deletions occur at lower frequencies in humans, suggesting stronger purifying selection compared to insertions.
  • Insertion and deletion rates correlate with genomic features and are associated with point mutations, but not local recombination rates.

Conclusions:

  • Deletions appear to be more deleterious than insertions in the human genome.
  • Despite differences in selective pressures, insertions and deletions are generally influenced by the same genomic factors.