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Processed pseudogene insertions in somatic cells.

Haig H Kazazian1

  • 1Institute for Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

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|September 4, 2014
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Summary
This summary is machine-generated.

Polymorphic processed pseudogenes, DNA copies from RNA, are newly discovered in humans. These genetic elements can appear in somatic cells, sometimes causing diseases like chronic granulomatous disease.

Keywords:
CancerChronic granulomatous diseaseL1 retrotransposonsPolymorphismProcessed pseudogenes

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Area of Science:

  • Genomics
  • Molecular Biology
  • Human Genetics

Background:

  • Processed pseudogenes originate from retrotransposition of messenger RNA by active L1 elements.
  • They typically lack introns, possess a 3' poly-A tail, and are bordered by target site duplications.
  • Previously, polymorphic processed pseudogenes were rarely identified in mammalian genomes.

Purpose of the Study:

  • To report the recent discovery of numerous polymorphic processed pseudogenes in the human genome.
  • To highlight the occurrence and potential impact of processed pseudogenes in somatic cells.

Main Methods:

  • Genome-wide analysis to identify processed pseudogenes.
  • Characterization of their polymorphic nature.
  • Investigation of their presence in somatic tissues and association with disease.

Main Results:

  • Several polymorphic processed pseudogenes have been identified in human populations.
  • Processed pseudogenes have been detected in somatic cells, including during early development and in cancers.
  • A somatic processed pseudogene insertion was linked to a Mendelian X-linked disorder, chronic granulomatous disease.

Conclusions:

  • Polymorphic processed pseudogenes are a significant and newly recognized feature of the human genome.
  • Somatic retrotransposition events involving processed pseudogenes can have functional consequences, including disease causation.