Alu repeats and human genomic diversity

Nat Rev Genet. 2002 May;3(5):370-9. doi: 10.1038/nrg798.

Abstract

During the past 65 million years, Alu elements have propagated to more than one million copies in primate genomes, which has resulted in the generation of a series of Alu subfamilies of different ages. Alu elements affect the genome in several ways, causing insertion mutations, recombination between elements, gene conversion and alterations in gene expression. Alu-insertion polymorphisms are a boon for the study of human population genetics and primate comparative genomics because they are neutral genetic markers of identical descent with known ancestral states.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Alu Elements / genetics*
  • Base Sequence
  • Evolution, Molecular
  • Gene Conversion
  • Genetic Variation*
  • Genome, Human*
  • Humans
  • Molecular Sequence Data
  • Polymorphism, Genetic
  • Recombination, Genetic
  • Retroelements / genetics
  • Sequence Alignment

Substances

  • Retroelements