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Related Concept Videos

Gene Duplication and Divergence02:37

Gene Duplication and Divergence

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The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
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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.
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Gene Families01:57

Gene Families

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Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
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Genome Size and the Evolution of New Genes03:21

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While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
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Gene Conversion02:08

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Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
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Exon Recombination02:32

Exon Recombination

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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. 
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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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Functional Innovation through Gene Duplication Followed by Frameshift Mutation.

Baocheng Guo1,2,3, Ming Zou1, Takahiro Sakamoto4

  • 1Key Laboratory of Zoological Systematics and Evolution, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China.

Genes
|February 25, 2022
PubMed
Summary

Gene duplication combined with frameshift mutations can create new gene functions. This study found many such cases in humans and other species, suggesting frameshift mutations are important for adaptive evolution.

Keywords:
ARHGAP11BNOTCH2NLOhnoframeshift mutationgene duplication

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Area of Science:

  • Evolutionary Biology
  • Genomics
  • Molecular Evolution

Background:

  • Gene duplication is a known driver of evolutionary innovation.
  • Frameshift mutations are typically considered deleterious and have been overlooked in the context of gene duplication.
  • Ohno's hypothesis suggested frameshift mutations could lead to new functions post-duplication.

Purpose of the Study:

  • To investigate the role of frameshift mutations in functional innovation following gene duplication.
  • To survey genomes for instances of duplicate genes affected by frameshift mutations.
  • To assess the evolutionary significance of frameshift mutations in gene duplication events.

Main Methods:

  • Exhaustive genome-wide survey of human, mouse, zebrafish, and fruit fly.
  • Identification and analysis of duplicate genes with post-duplication frameshift mutations.
  • Examination of mutation location (e.g., C-terminus), patterns, and functional evidence (sequence, expression).

Main Results:

  • Identified 80 duplicate genes with frameshift mutations across surveyed species.
  • Frameshift mutations frequently occurred near the C-terminus, potentially enabling adaptive evolution.
  • Functional evidence supports a role for these mutated duplicates in creating novel functions.
  • Demonstrated a non-negligible number of genes affected by frameshift mutations after duplication.

Conclusions:

  • Frameshift mutations following gene duplication can contribute to adaptive evolution and functional novelty.
  • These findings support Ohno's long-standing hypothesis on the evolutionary role of frameshift mutations.
  • Highlights the underappreciated importance of frameshift mutations in molecular evolution.