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Related Concept Videos

Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

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...
LTR Retrotransposons03:08

LTR Retrotransposons

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...
Retroviruses02:33

Retroviruses

Retroviruses and retrotransposons both insert copies of their genetic elements into the genome of the host cell. Thus, the viral genes are passed on when the host genome is replicated or translated. A typical retroviral DNA sequence contains 3-4 genes that encode the different proteins required for its structural assembly and function as a molecular parasite. This DNA is transcribed into a single mRNA, which is very similar in structure to conventional mRNAs, i.e., it is capped at the 5’...
Mechanisms of Retrovirus-induced Cancers01:51

Mechanisms of Retrovirus-induced Cancers

Retroviruses are RNA viruses that have been shown to cause cancers in diverse species, including chickens, mice, cats, and monkeys. The RNA genomes of these viruses are first reverse-transcribed into single and then double-stranded DNA (dsDNA) copies. This dsDNA called proviral DNA then integrates into the host genome. Subsequently, the host cell transcribes the proviral DNA in concert with the chromosomal DNA. This leads to the production of viral RNA and proteins that assemble at the host...
Mechanisms of Retrovirus-induced Cancers01:51

Mechanisms of Retrovirus-induced Cancers

Retroviruses are RNA viruses that have been shown to cause cancers in diverse species, including chickens, mice, cats, and monkeys. The RNA genomes of these viruses are first reverse-transcribed into single and then double-stranded DNA (dsDNA) copies. This dsDNA called proviral DNA then integrates into the host genome. Subsequently, the host cell transcribes the proviral DNA in concert with the chromosomal DNA. This leads to the production of viral RNA and proteins that assemble at the host...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

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Related Experiment Video

Updated: May 15, 2026

Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer
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Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer

Published on: November 2, 2013

Retroelements in human disease.

Kristel Kaer1, Mart Speek

  • 1Department of Gene Technology, Tallinn University of Technology, Akadeemia tee 15, Tallinn 12618, Estonia. kristel.kaer@mail.ee

Gene
|January 22, 2013
PubMed
Summary

Active retroelements, like L1, Alu, and SVA, cause genetic diseases by inserting into DNA. These insertions disrupt gene expression and splicing through complex molecular mechanisms.

Area of Science:

  • Genetics
  • Molecular Biology
  • Genomics

Background:

  • Retroelements are abundant noncoding DNA sequences in the human genome.
  • Active retroelements (L1, Alu, SVA) can move and alter genomic regions.
  • Retroelement insertions into genes are linked to various genetic diseases, including cancer.

Purpose of the Study:

  • To summarize the molecular mechanisms of retroelement-induced mutagenesis.
  • To categorize the mutagenic effects of retroelements.
  • To explain disease-causing mechanisms via exon definition and transcriptional interference.

Main Methods:

  • Review of current scientific literature on retroelement mutagenesis.
  • Categorization of retroelement-induced mutagenic effects into eleven mechanisms.

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Retroviral Scanning: Mapping MLV Integration Sites to Define Cell-specific Regulatory Regions
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Retroviral Scanning: Mapping MLV Integration Sites to Define Cell-specific Regulatory Regions

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Last Updated: May 15, 2026

Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer
13:19

Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer

Published on: November 2, 2013

Detection of Retrotransposition Activity of Hot LINE-1s by Long-Distance Inverse PCR
10:54

Detection of Retrotransposition Activity of Hot LINE-1s by Long-Distance Inverse PCR

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Retroviral Scanning: Mapping MLV Integration Sites to Define Cell-specific Regulatory Regions

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  • Analysis of mechanisms in relation to gene transcription and splicing.
  • Main Results:

    • Retroelements cause genetic diseases through diverse mechanisms, including altering gene transcription and splicing.
    • Eleven distinct mutagenic mechanisms were identified and categorized.
    • Many retroelement-induced mutations can be explained by exon definition or transcriptional interference.

    Conclusions:

    • Retroelement insertions into genes significantly alter transcription and cotranscriptional splicing.
    • Retroelement-induced mutagenesis is a complex process contributing to numerous human diseases.
    • Transcriptional interference emerges as a key, previously unrecognized, mechanism in retroelement mutagenesis.