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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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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, 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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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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The genome of most prokaryotic organisms consists of double-stranded DNA organized into one circular chromosome in a region of cytoplasm called the nucleoid. The chromosome is tightly wound, or supercoiled, for efficient storage. Prokaryotes also contain other circular pieces of DNA called plasmids. These plasmids are smaller than the chromosome and often carry genes that confer adaptive functions, such as antibiotic resistance.
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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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Updated: Oct 2, 2025

Determination of the Optimal Chromosomal Locations for a DNA Element in Escherichia coli Using a Novel Transposon-mediated Approach
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Characterizing mobile element insertions in 5675 genomes.

Yiwei Niu1,2, Xueyi Teng1,3, Honghong Zhou1

  • 1Key Laboratory of RNA Biology, Center for Big Data Research in Health, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China.

Nucleic Acids Research
|February 25, 2022
PubMed
Summary
This summary is machine-generated.

This study maps 36,699 mobile element insertions (MEIs) across 5,675 human genomes, revealing their significant role in genetic disorders and protein-truncating events. A new database, HMEID, is now available for research.

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Area of Science:

  • Genomics
  • Human Genetics
  • Bioinformatics

Background:

  • Mobile element insertions (MEIs) are a key class of structural variants implicated in human genetic disorders.
  • Existing human MEI resources from large-scale sequencing are limited compared to other genetic variations like SNPs and SVs.

Purpose of the Study:

  • To construct a comprehensive map of non-reference MEIs in the human genome.
  • To investigate the genomic distribution and functional impact of MEIs.
  • To establish a publicly accessible database for human MEI findings.

Main Methods:

  • Analysis of 5,675 human genomes (2,998 Chinese samples and 2,677 from the 1000 Genomes Project) using high-coverage sequencing.
  • Identification and mapping of 36,699 non-reference MEIs.
  • Functional annotation of identified MEIs and assessment of their impact on protein-coding genes.

Main Results:

  • A comprehensive map of 36,699 non-reference MEIs was generated.
  • LINE-1 insertions showed significant enrichment in centromeric regions, suggesting context-dependent insertion.
  • MEIs were found to account for approximately 9.3% of all protein-truncating events per genome.

Conclusions:

  • The study provides the largest and most up-to-date genomewide resource of human MEIs.
  • MEIs are a substantial contributor to genetic variation and protein-truncating events with implications for human health.
  • The HMEID database offers a valuable resource for future research on mobile elements and genetic disease.