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Related Concept Videos

Transposons01:24

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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Mutations in Microorganisms01:18

Mutations in Microorganisms

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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,...
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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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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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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...
19.9K
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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Related Experiment Video

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Mobile elements and disease

H H Kazazian1

  • 1Department of Genetics, University of Pennsylvania, School of Medicine, Philadelphia, Pennsylvania 19104, USA. kazazian@mail.med.upenn.edu

Current Opinion in Genetics & Development
|August 5, 1998
PubMed
Summary
This summary is machine-generated.

Mobile elements, including retrotransposons, are abundant in mammalian genomes. While recent insertions cause frequent disease in mice, their impact in humans is less common, though L1 elements can autonomously retrotranspose.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Mobile Genetic Elements

Background:

  • Mammalian genomes contain a substantial fraction of mobile elements and their remnants.
  • Recent insertions of various retrotransposons (LTR, non-LTR, non-autonomous) are linked to disease, predominantly in mice.
  • Many mobile elements are defective, but some non-LTR retrotransposons, specifically L1 elements, retain autonomous retrotransposition capability.

Purpose of the Study:

  • To elucidate the mechanism of autonomous retrotransposition by mammalian L1 elements.
  • To understand how L1 elements facilitate the retrotransposition of non-autonomous elements.

Main Methods:

  • Analysis of mobile element sequences and their genomic distribution.
  • Investigation of retrotransposition mechanisms in mammalian systems.
  • Comparative genomics to assess disease-causing potential in different species.

Main Results:

  • Identified specific L1 non-LTR retrotransposons capable of autonomous retrotransposition in mammals.
  • Demonstrated that L1 elements play a role in aiding the retrotransposition of other mobile elements.
  • Highlighted a difference in disease incidence from recent retrotransposon insertions between mice and humans.

Conclusions:

  • Mammalian L1 retrotransposons are active mobile elements with the capacity for autonomous retrotransposition.
  • The mechanisms underlying L1 retrotransposition and its role in mobilizing other elements are crucial for understanding genome dynamics.
  • The differential disease impact of mobile element insertions in mice versus humans warrants further investigation.