Differential alu mobilization and polymorphism among the human and chimpanzee lineages

Genome Res. 2004 Jun;14(6):1068-75. doi: 10.1101/gr.2530404.

Abstract

Alu elements are primate-specific members of the SINE (short interspersed element) retroposon family, which comprise approximately 10% of the human genome. Here we report the first chromosomal-level comparison examining the Alu retroposition dynamics following the divergence of humans and chimpanzees. We find a twofold increase in Alu insertions in humans in comparison to the common chimpanzee (Pan troglodytes). The genomic diversity (polymorphism for presence or absence of the Alu insertion) associated with these inserts indicates that, analogous to recent nucleotide diversity studies, the level of chimpanzee Alu diversity is approximately 1.7 times higher than that of humans. Evolutionarily recent Alu subfamily structure differs markedly between the human and chimpanzee lineages, with the major human subfamilies remaining largely inactive in the chimpanzee lineage. We propose a population-based model to account for the observed fluctuation in Alu retroposition rates across primate taxa.

Publication types

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

MeSH terms

  • Alu Elements / genetics*
  • Animals
  • Aotus trivirgatus / genetics
  • Base Composition / genetics
  • Base Sequence / genetics
  • Cell Line
  • Chromosome Mapping / methods
  • Chromosomes, Human, Pair 21 / genetics
  • DNA / genetics
  • Evolution, Molecular*
  • Genetic Markers / genetics
  • Gorilla gorilla / genetics
  • Humans
  • Molecular Sequence Data
  • Mutagenesis, Insertional / genetics
  • Pan paniscus / genetics
  • Pan troglodytes / genetics*
  • Polymorphism, Genetic / genetics*
  • Racial Groups / genetics
  • Species Specificity

Substances

  • Genetic Markers
  • DNA

Associated data

  • GENBANK/AY569161
  • GENBANK/AY569162
  • GENBANK/AY569163
  • GENBANK/AY569164
  • GENBANK/AY569165
  • GENBANK/AY569166
  • GENBANK/AY569167
  • GENBANK/AY569168
  • GENBANK/AY569169
  • GENBANK/AY569170