Differential alu mobilization and polymorphism among the human and chimpanzee lineages

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 chimpanzee...

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Bibliographic Details
Published in:Genome research 2004-06, Vol.14 (6), p.1068-1075
Main Authors: Hedges, Dale J, Callinan, Pauline A, Cordaux, Richard, Xing, Jinchuan, Barnes, Erin, Batzer, Mark A
Format: Article
Language:English
Subjects:
Alu Elements - genetics
Animals
Aotus trivirgatus - genetics
Base Composition - genetics
Base Sequence - genetics
Cell Line
Chromosome Mapping - methods
Chromosomes, Human, Pair 21 - genetics
Continental Population Groups - genetics
DNA - genetics
Evolution, Molecular
Genetic Markers - genetics
Gorilla gorilla - genetics
Humans
Letters
Molecular Sequence Data
Mutagenesis, Insertional - genetics
Pan paniscus - genetics
Pan troglodytes
Pan troglodytes - genetics
Polymorphism, Genetic - genetics
Species Specificity
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Summary: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.
ISSN:1088-9051
1054-9803
DOI:10.1101/gr.2530404