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Genetic variation of recent Alu insertions in human populations

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Abstract

The Alu family of intersperesed repeats is comprised of ovr 500,000 members which may be divided into discrete subfamilies based upon mutations held in common between members. Distinct subfamilies of Alu sequences have amplified within the human genome in recent evolutionary history. Several individual Alu family members have amplified so recently in human evolution that they are variable as to presence and absence at specific loci within different human populations. Here, we report on the distribution of six polymorphic Alu insetions in a survey of 563 individuals from 14 human population groups across several continents. Our results indicate that these polymorphic Alu insertions probably have an African origin and that there is a much smaller amount of genetic variation between European populations than that found between other populations groups.

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Authors and Affiliations

  1. Human Genome Center, L-452, Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, P.O. Box 808, 94551, CA, Livermore, USA

    Mark A. Batzer, Santosh S. Arcot, Joshua W. Phinney & Michelle Alegria-Hartman

  2. Department of Biochemistry and Molecular Biology, Center for Human and Molecular Genetics, Louisiana State University Medical Center, 1901 Perdido St., 70112, New Orleans, LA, USA

    David H. Kass & Prescott L. Deininger

  3. DNA Unit, Michigan State Police, 714 South Harrison Road, 48823, East Lansing, MI, USA

    Stephen M. Milligan

  4. Forensic Science Service, Priory House, Gooch Street North, B5 6QQ, Birmingham, UK

    Colin Kimpton & Peter Gill

  5. Department of Forensic Medicine, University of Bern, Buehlstrasse 20, CH-3012, Bern, Switzerland

    Manfred Hochmeister

  6. The Cyprus Institute of Neurology and Genetics, P.O. Box 3462, Nicosia, Cyprus

    Panayiotis A. Ioannou

  7. Department of Biological Sciences, Florida International University, University Park Campus, 33199, Miami, FL, USA

    Rene J. Herrera

  8. Department of Pathology, Louisiana State University Medical Center, 1901 Perdido St., 70112, New Orleans, LA, USA

    Donald A. Boudreau & W. Douglas Scheer

  9. Department of Biometry and Genetics, Center for Human and Molecular Genetics, Louisiana State University Medical Center, 1901 Perdido St., 70112, New Orleans, LA, USA

    Bronya J. B. Keats

  10. Laboratory of Molecular Genetics, Alton Ochsner Medical Foundation, 70121, New Orleans, LA, USA

    Prescott L. Deininger

  11. Department of Anthropology, Pennsylvania State University, 16802, University Park, PA, USA

    Mark Stoneking

Authors
  1. Mark A. Batzer
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  2. Santosh S. Arcot
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  3. Joshua W. Phinney
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  4. Michelle Alegria-Hartman
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  5. David H. Kass
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  6. Stephen M. Milligan
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  7. Colin Kimpton
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  8. Peter Gill
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  9. Manfred Hochmeister
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  10. Panayiotis A. Ioannou
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  11. Rene J. Herrera
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  12. Donald A. Boudreau
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  13. W. Douglas Scheer
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  14. Bronya J. B. Keats
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  15. Prescott L. Deininger
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  16. Mark Stoneking
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Additional information

Present address: Department of Pathology, Stanley S. Scott Cancer Center, Louisiana State University Medical Center, 1901 Perdido St., New Orleans, LA 70112

Correspondence to: M.A. Batzer

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Batzer, M.A., Arcot, S.S., Phinney, J.W. et al. Genetic variation of recent Alu insertions in human populations. J Mol Evol 42, 22–29 (1996). https://doi.org/10.1007/BF00163207

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  • DOI: https://doi.org/10.1007/BF00163207

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