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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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Gene Families01:57

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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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Multi-species Conserved Sequences02:51

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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
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Gene Evolution - Fast or Slow?02:05

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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.
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Exon Recombination02:32

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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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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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Related Experiment Video

Updated: Aug 22, 2025

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis
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Evolution and function of developmentally dynamic pseudogenes in mammals.

Sheng Hu Qian1,2, Lu Chen1,2, Yu-Li Xiong1,2

  • 1Hubei Hongshan Laboratory, College of Biomedicine and Health, Huazhong Agricultural University, Wuhan, 430070, PR China.

Genome Biology
|November 9, 2022
PubMed
Summary
This summary is machine-generated.

Pseudogenes, once overlooked, are now recognized as key regulators in development and disease. This study reveals abundant transcribed and translated pseudogenes, highlighting their novel regulatory roles in mammals.

Keywords:
Developmentally dynamic expressionEvolutionIso-seqMammalsPseudogene

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Area of Science:

  • Genomics
  • Evolutionary Biology
  • Molecular Biology

Background:

  • Pseudogenes are valuable markers for understanding genome evolution.
  • Their roles in development, disease, and cancer are increasingly recognized but largely unexplored.
  • Systematic functional characterization and evolutionary analysis of pseudogenes are needed.

Purpose of the Study:

  • To systematically characterize the origin, evolution, and function of pseudogenes in human and mouse lineages.
  • To investigate the transcriptional and translational potential of pseudogenes.
  • To explore the involvement of pseudogenes in organ development and cancer.

Main Methods:

  • Dating pseudogene origins across vertebrates.
  • Utilizing a hybrid sequencing dataset (PacBio, Illumina) and transcriptome data.
  • Analyzing pseudogene conservation, developmental dynamics, and coding potential.

Main Results:

  • A burst of pseudogene gain was observed in human and mouse lineages.
  • Abundant mammalian pseudogenes are transcribed and contribute to organ identity.
  • Developmentally dynamic pseudogenes are conserved, functionally enriched, and can be translated, offering new avenues for protein innovation.
  • Pseudogenes harbor disease-associated SNPs and impact cancer transcriptomes.

Conclusions:

  • Mammalian pseudogenes represent a novel regulatory layer due to their high abundance, transcription, and translation.
  • Developmentally dynamic pseudogenes with functional signatures are prioritized for future research.
  • A comprehensive dataset is provided for further investigation into pseudogene roles in development and cancer.