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Genetic variation of recent Alu insertions in human populations
Authors:Mark A Batzer  Santosh S Arcot  Joshua W Phinney  Michelle Alegria-Hartman  David H Kass  Stephen M Milligan  Colin Kimpton  Peter Gill  Manfred Hochmeister  Panayiotis A Ioannou  Rene J Herrera  Donald A Boudreau  W Douglas Scheer  Bronya J B Keats  Prescott L Deininger  Mark Stoneking
Institution:(1) Human Genome Center, L-452, Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, P.O. Box 808, 94551 CA, Livermore, USA;(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;(3) DNA Unit, Michigan State Police, 714 South Harrison Road, 48823 East Lansing, MI, USA;(4) Forensic Science Service, Priory House, Gooch Street North, B5 6QQ Birmingham, UK;(5) Department of Forensic Medicine, University of Bern, Buehlstrasse 20, CH-3012 Bern, Switzerland;(6) The Cyprus Institute of Neurology and Genetics, P.O. Box 3462, Nicosia, Cyprus;(7) Department of Biological Sciences, Florida International University, University Park Campus, 33199 Miami, FL, USA;(8) Department of Pathology, Louisiana State University Medical Center, 1901 Perdido St., 70112 New Orleans, LA, USA;(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;(10) Laboratory of Molecular Genetics, Alton Ochsner Medical Foundation, 70121 New Orleans, LA, USA;(11) Department of Anthropology, Pennsylvania State University, 16802 University Park, PA, USA
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. 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
Keywords:Human evolution  African origin  Identical by descent  Polymorphism
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