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Related Concept Videos

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

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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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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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DNA-only Transposons02:57

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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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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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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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Analysis of LINE-1 Retrotransposition at the Single Nucleus Level
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LINE-1 retrotransposons drive human neuronal transcriptome complexity and functional diversification.

Raquel Garza1,2, Diahann A M Atacho1,2, Anita Adami1,2

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Long interspersed nuclear element-1 (L1) retrotransposons are active in the human brain, generating novel transcripts. These L1-derived RNAs contribute to human brain evolution and development.

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Area of Science:

  • Genetics
  • Neuroscience
  • Evolutionary Biology

Background:

  • The genetic basis for human brain evolution, particularly its size and complexity, is not well understood.
  • Long interspersed nuclear element-1 (L1) retrotransposons are known to introduce genetic diversity in primates, but their role in human physiology and brain evolution is unclear.

Purpose of the Study:

  • To investigate the activity and function of L1 retrotransposons in the human brain.
  • To determine the contribution of L1-derived genetic elements to human brain evolution and development.

Main Methods:

  • Multiomics profiling of the human brain (developing and adult).
  • Analysis of L1-derived transcripts, including chimeric and regulatory RNAs.
  • CRISPR interference (CRISPRi) to silence the L1-derived long noncoding RNA LINC01876 in cerebral organoids.

Main Results:

  • L1 promoters are dynamically active in both developing and adult human brains.
  • Hundreds of developmentally regulated and cell type-specific L1 transcripts are generated, including chimeric transcripts and regulatory RNAs.
  • The human-specific L1-derived long noncoding RNA LINC01876 is crucial for normal cerebral organoid development, with its silencing leading to reduced size and premature neural progenitor differentiation.

Conclusions:

  • L1 retrotransposons contribute significantly to the complexity of the human transcriptome.
  • L1-derived transcripts represent a novel layer of primate- and human-specific genetic information.
  • These findings implicate L1 elements in the functional diversification and evolution of the human brain.