Polymorphic Alu Insertions

  • Alu family of retroposons is present at an extremely large copy numbers within the chromosomes of the human genome (500,000 copies/genome equivalent)

  • Five polymorphic Alu insertions were examined from 24 Native American populations

  • The comparison showed a close similarity between Chinese and Native Americans populations

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Slide 37 of 56


The Alu family of retroposons is present at an extremely large copy number within the chromosomes of the human genome (500,000 copies/genome equivalent), representing approximately 10% of its mass. The majority of these elements are thought to be transcriptionally inactive pseudogenes. The distribution of the polymorphic Alu insertions is variable within population groups from different geographic origins, and is not random along individual human chromosomes.

A study examined 5 polymorphic Alu insertions in 895 unrelated individuals from 24 Native American populations compared to a worldwide population survey.1 The results showed a close similarity between the Chinese and Native Americans, demonstrating a recent gene flow from Asia.


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  1. Novick GE, Novick CC, Yunis J, Yunis E, Antunez de Mayolo P, Scheer WD, Deininger PL, Stoneking M, York DS, Batzer MA, Herrera RJ. 1998. Polymorphic Alu insertions and the Asian origin of Native American populations. Hum. Biol. 70:23-39.