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Repetitive Elements in Humans.

Thomas Liehr1

  • 1Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Am Klinikum 1, D-07747 Jena, Germany.

International Journal of Molecular Sciences
|March 6, 2021
PubMed
Summary
This summary is machine-generated.

Repetitive DNA, once dismissed as junk, is now recognized for its role in human diseases. Variations in elements like variable number tandem repeats (VNTRs) can influence disease susceptibility.

Keywords:
chromosomal heteromorphisms (CHs)higher-order repeat (HOR)microsatellitesminisatellitesretroviral DNAsmall-scale repetitive elements (SSREs)variable numbers of tandem repeats (VNTRs)

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Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Repetitive DNA in the human genome was historically considered non-functional.
  • Variations in euchromatic regions are increasingly recognized as influencing the 'genetic background' and disease susceptibility.
  • This review focuses on the underappreciated role of repetitive DNA elements in human health and disease.

Purpose of the Study:

  • To review known repetitive DNA elements that may directly or indirectly influence human diseases and susceptibilities.
  • To highlight the potential significance of repetitive DNA variations beyond euchromatic regions.
  • To advocate for increased research into the functional impact of repetitive DNA.

Main Methods:

  • Review of existing literature on repetitive DNA elements and their association with diseases.
  • Categorization of repetitive DNA elements, including variable number tandem repeats (VNTRs), small-scale repetitive elements (SSREs), and chromosomal heteromorphisms (CHs).
  • Discussion of the potential mechanisms by which these elements influence disease.

Main Results:

  • Variable number tandem repeats (micro- and minisatellites), small-scale repetitive elements, and chromosomal heteromorphisms are identified as potentially significant contributors to disease.
  • These repetitive elements can exert direct or indirect influences on disease susceptibility.
  • The functional impact of repetitive DNA variations is often overlooked compared to euchromatic variations.

Conclusions:

  • Repetitive DNA elements are not universally meaningless and can play a role in human disease.
  • Further research is needed to fully elucidate the impact of repetitive DNA on health and disease.
  • Studies should investigate repetitive DNA at multiple resolution levels, including base pair, chromosomal, and epigenetic levels.