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Related Experiment Videos

LINE-1: a human transposable element

M F Singer1, V Krek, J P McMillan

  • 1Laboratory of Biochemistry, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892.

Gene
|December 15, 1993
PubMed
Summary
This summary is machine-generated.

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Active retrotransposons called LINE-1 (L1Hs) are found in the human genome. Their expression is higher in germ line and tumor cells, with specific proteins and regulatory regions identified.

Area of Science:

  • Genomics
  • Molecular Biology
  • Cell Biology

Background:

  • The human genome contains approximately 10^5 LINE-1 sequences (L1Hs), including active 6-kb retrotransposon segments.
  • LINE-1 retrotransposon expression is notably higher in germ line cells and certain epithelial tumor cells.

Purpose of the Study:

  • To investigate the expression patterns and regulatory mechanisms of active LINE-1 retrotransposons in human cells.
  • To characterize the proteins encoded by LINE-1 open reading frames (ORFs) and their functional domains.
  • To identify key regulatory elements controlling LINE-1 transcription initiation and efficiency.

Main Methods:

  • Analysis of LINE-1 (L1Hs) sequence distribution and activity in the human genome.
  • Detection of LINE-1 encoded proteins, specifically the p40 protein from the first ORF.

Related Experiment Videos

  • Investigation of transcriptional regulation, including the role of specific binding sites (e.g., YY1) in the 5' untranslated region.
  • Examination of the translational control mechanisms for LINE-1 ORFs.

    • Main Results:

    • The p40 protein, translated from the first L1Hs ORF, is detectable in cells with high retrotransposon activity.
    • The p40 protein possesses a leucine zipper region, potentially mediating multimerization.
    • LINE-1 transcription initiates at residue 1, with crucial regulatory elements located within the first 670 bp of the 5' untranslated region.
    • Deletion of a YY1-binding site within the first 20 bp significantly reduces L1Hs transcription (fivefold).
    • Translation of the second ORF, encoding reverse transcriptase, occurs independently of the first ORF's translation.

    Conclusions:

    • LINE-1 retrotransposon expression is cell-type specific, favoring germ line and tumor cells.
    • The p40 protein and its leucine zipper domain play a role in L1Hs activity.
    • Specific regulatory elements, including a YY1-binding site, are critical for controlling L1Hs transcription.
    • Independent translation of LINE-1 ORFs allows for differential protein production, contributing to retrotransposon function.