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Alu repeats and human disease.

P L Deininger1, M A Batzer

  • 1Department of Environmental Health Sciences, Tulane University Medical Center, 1430 Tulane Avenue, New Orleans, Louisiana, 70112, USA. pdeinin@tcs.tulane.edu

Molecular Genetics and Metabolism
|June 25, 1999
PubMed
Summary

Alu elements, mobile genetic sequences, cause human diseases through insertion and recombination. These genomic events contribute to approximately 0.4% of genetic disorders and cancers.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Human Genetics

Background:

  • Alu elements are abundant mobile genetic sequences in primate genomes, amplified via retroposition.
  • They significantly impact genomic architecture and continue to propagate in the human population.

Purpose of the Study:

  • To investigate the role of Alu elements in causing human genetic diseases.
  • To quantify the contribution of Alu-mediated insertion and recombination to genetic disorders and cancer.

Main Methods:

  • Identification and analysis of disease cases linked to Alu element insertion.
  • Examination of unequal homologous recombination events between Alu repeats in genetic diseases and cancer.

Main Results:

  • 16 diseases identified caused by Alu element insertion, accounting for ~0.1% of genetic disorders.
  • 33 germ-line diseases and 16 cancers linked to Alu-mediated unequal homologous recombination, accounting for ~0.3% of genetic diseases.

Conclusions:

  • Alu elements are a significant source of human genetic diseases through insertion and recombination.
  • These mobile elements contribute substantially to both genome evolution and human pathology.

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