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Related Concept Videos

Overview of Transposition and Recombination02:13

Overview of Transposition and Recombination

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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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Transposons

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Transposons, or "jumping genes," are small mobile genetic elements (MGEs) that range from 700 to 40,000 base pairs in length. They are found in all organisms and can move within the same chromosome or transfer to different chromosomes. In some cases, transposons can also jump between different host DNA molecules, such as plasmids or viruses, contributing to genetic variability.Barbara McClintock first discovered these mobile genetic elements in the 1940s while studying maize genetics, and she...
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DNA-only Transposons02:57

DNA-only Transposons

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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.
The donor site from where the transposon is excised is either degraded or...
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Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

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As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
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LTR Retrotransposons03:08

LTR Retrotransposons

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LTR retrotransposons are class I transposable elements with long terminal repeats flanking an internal coding region. These elements are less abundant in mammals compared to other class I transposable elements. About 8 percent of human genomic DNA comprises LTR retrotransposons. Some of the common examples of LTR retrotransposons are Ty elements in yeast and Copia elements in Drosophila.
The internal coding region of LTR retrotransposons and their mechanism of transposition closely resembles a...
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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. 
Exon shuffling follows “splice frame rules.” Each exon...
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Real-Time Quantification of the Effects of IS200/IS605 Family-Associated TnpB on Transposon Activity
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Transposable element-driven transcript diversification and its relevance to genetic disorders.

Selvam Ayarpadikannan1, Hee-Eun Lee1, Kyudong Han2

  • 1Department of Biological Sciences, College of Natural Sciences, Pusan National University, Busan 609-735, Republic of Korea.

Gene
|January 25, 2015
PubMed
Summary
This summary is machine-generated.

Transposable elements (TEs) drive genetic diversity through alternative splicing (AS), impacting evolution and potentially causing disorders. Research reveals TEs are not "junk DNA" and may hold clinical potential, requiring further study.

Keywords:
Alternative splicingAntisense oligonucleotidesExonizationGenetic disorderIntron retentionPolyadenylationTransposable elements

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Area of Science:

  • Genomics
  • Molecular Biology
  • Evolutionary Biology

Background:

  • The human genome has approximately 22,000-25,000 functional genes.
  • Protein repertoire diversity is largely attributed to alternative splicing (AS).
  • Transposable elements (TEs) are mobile genetic sequences that can alter their genomic positions.

Purpose of the Study:

  • To review the literature on transposable element (TE)-derived alternative splicing (AS), alternative promoter usage, and alternative polyadenylation.
  • To summarize the effects of TEs on coding genes and their clinical implications.
  • To provide perspectives and future research directions on TEs in clinical practice.

Main Methods:

  • Literature review of studies on TEs and their genomic roles.
  • Analysis of mechanisms by which TE insertions influence AS (e.g., intron retention, alternative splice sites).
  • Examination of evidence for TE involvement in evolution and genetic disorders.

Main Results:

  • TE insertions can induce AS through various mechanisms.
  • TE-derived AS is implicated in primate evolution and hominid radiation.
  • TEs are increasingly recognized as having potential clinical applications, challenging the 'junk DNA' concept.

Conclusions:

  • Transposable elements significantly contribute to genomic complexity and diversity.
  • TEs can lead to genetic disorders but also offer potential therapeutic avenues.
  • Further research is essential to explore the clinical feasibility of utilizing TEs.