Human Population Genetic Structure


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Original Paper Received April 18 2006 Accepted after revision July 25 2006 Published online September 21 2006 Hum Hered 2006 62 30 46 DOI 10 1159 000095851 Human Population Genetic Structure and Diversity Inferred from Polymorphic L1 LINE 1 and Alu Insertions Witherspoon a Marchani a Watkins a Ostler a D J E E W S C T S P b b c d B A Anders J D Fowlkes S Boissinot A V Furano D A Ray b A R Rogers e M A Batzer b L B Jorde a a Wooding a Department of Human Genetics University of Utah Health Sciences Center Salt Lake City Utah Department of Biological Sciences Louisiana State University Baton Rouge La c Department of Biology Queens College Flushing N Y d Laboratory of Molecular and Cellular Biology NIDDK National Institutes of Health Bethesda Md e Department of Anthropology University of Utah Salt Lake City Utah USA b Key Words Genetics population genetics Evolution Bioinformatics computational biology Abstract Background Aims The L1 retrotransposable element family is the most successful self replicating genomic parasite of the human genome L1 elements drive replication of Alu elements and both have had far reaching impacts on the human genome We use L1 and Alu insertion polymorphisms to analyze human population structure Methods We genotyped 75 recent polymorphic L1 insertions in 317 individuals from 21 populations in sub Saharan Africa East Asia Europe and the Indian subcontinent This is the first sample of L1 loci large enough to support detailed population genetic inference We analyzed these data in parallel with a set of 100 polymorphic Alu insertion loci previously genotyped in the same individuals Results and Conclusion The data sets yield congruent results that support the recent African origin model of human ancestry A genetic clustering algorithm detects clusters of individuals corresponding to continental regions The number of loci sampled is critical with fewer 2006 S Karger AG Basel 0001 5652 06 0621 0030 23 50 0 Fax 41 61 306 12 34 E Mail karger karger ch

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