Alu repeats and human genomic diversity

MA Batzer, PL Deininger - Nature reviews genetics, 2002 - nature.com
MA Batzer, PL Deininger
Nature reviews genetics, 2002nature.com
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 …
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.
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