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Related Concept Videos

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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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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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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Retroviruses02:33

Retroviruses

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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’...
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Related Experiment Video

Updated: Apr 18, 2026

RNA Next-Generation Sequencing and a Bioinformatics Pipeline to Identify Expressed LINE-1s at the Locus-Specific Level
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RNA Next-Generation Sequencing and a Bioinformatics Pipeline to Identify Expressed LINE-1s at the Locus-Specific Level

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Cell lineage analysis in human brain using endogenous retroelements.

Gilad D Evrony1, Eunjung Lee2, Bhaven K Mehta1

  • 1Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.

Neuron
|January 9, 2015
PubMed
Summary
This summary is machine-generated.

Somatic mutations in the human brain are common and can be traced using single-neuron sequencing. These mutations mark distinct cell lineages, revealing patterns relevant to neurogenetic diseases.

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Analysis of LINE-1 Retrotransposition at the Single Nucleus Level
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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Somatic mutations arise during development and are linked to neurogenetic disorders.
  • The distribution patterns of somatic mutations in the normal human brain remain largely unknown.
  • Understanding these patterns is crucial for deciphering brain development and disease.

Purpose of the Study:

  • To investigate the distribution patterns of somatic mutations in the human brain.
  • To utilize somatic mutations as clonal markers for tracing cell lineages.
  • To explore the implications of these patterns for neurogenetic diseases.

Main Methods:

  • High-coverage whole-genome sequencing of single neurons from a normal individual.
  • Identification of spontaneous somatic mutations, including LINE-1 (L1) retrotransposition events.
  • Analysis of mutation patterns across >30 nervous system locations to track cell lineages and clones.

Main Results:

  • Multiple cell lineages and sublineages marked by distinct L1 retrotransposition events were identified.
  • One clone comprised thousands of cells localized to the left middle frontal gyrus.
  • A second clone contained millions of cells distributed throughout the left hemisphere.

Conclusions:

  • Single-cell somatic mutation analysis effectively traces cell lineage clones in the human brain.
  • Observed mutation distribution patterns resemble those in known somatic mutation disorders of brain development.
  • Focally distributed somatic mutations are likely prevalent even in normal brains, offering insights into developmental processes.