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Inferring bio-geographic ancestry from DNA

Tracing back the bio-geographic ancestry of a person i.e., the geographic region to which an individual’s biological ancestors originate, is of interest to many people in science but also in the public. In a forensic context, revealing geographic information from DNA found at a crime scene can provide valuable information in finding unknown persons who usually cannot be identified via conventional DNA profiling. Often, genetic markers located on the Y-chromosome, which is inherited from the father to his son(s), are used to trace the paternal bio-geographic ancestry, whereas markers located on the mitochondrial DNA, inherited from the mother to all her offspring, are applied to trace maternal bio-geographic ancestry. While such uni-parental lineage markers are powerful, they provide conflicting information in people whose paternal and maternal ancestors come from different geographic regions. Besides further developing Y-chromosomal and mitochondrial DNA tools, we therefore focus on exploring autosomal DNA, which is inherited from both parents equally to their offspring, for a more detailed inference of bio-geographic ancestry also in genetically admixed individuals; this includes the development of molecular tools for practical forensic applications.  


Selected recent publications:

  • Lao O, van Duijn K, Kersbergen P, de Knijff P, and Kayser M (2006) Proportioning whole-genome single nucleotide polymorphism diversity for the identification of geographic population structure and genetic ancestry. American Journal of Human Genetics, 78:680-690
  • Lao O, Lu TT, Nothnagel M, Junge O, Freitag-Wolf S, Caliebe A, Balascakova M, Bertranpetit J, Bindoff LA, Comas D, Holmlund G, Kouvatsi A, Macek M, Mollet I, Parson W, Palo J, Ploski R, Sajantila A, Tagliabracci A, Gether U, Werge T, Rivadeneira F, Hofman A, Uitterlinden AG, Gieger C, Wichmann H-E, Rüther A, Schreiber S, Becker C, Nürnberg P, Nelson MR, Krawczak M, and Kayser M (2008) Correlation between genetic and geographic structure in Europe. Current Biology, 18:1241-1248.
    Van Oven M and Kayser M (2009) Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Human Mutation, 30 (2):E386-E394.
  • Kersbergen P, van Duijn K, Kloosterman AD, den Dunnen JT, Kayser M, de Knijff P (2009) Developing  a  set  of  ancestry-sensitive  DNA markers reflecting continental origins of humans. BMC Genetics, 10:69. Kersbergen P, van Duijn K, Kloosterman AD, den Dunnen JT, Kayser M, de Knijff P (2009) Developing  a  set  of  ancestry-sensitive  DNA markers reflecting continental origins of humans. BMC Genetics, 10:69.
  • Corach D, Lao O, Bobillo C, van der Gaag K, Zuniga S, Vermeulen M, van Duijn K, Goedbloed M, Vallone PM, Parson W, de Knijff  P, and Kayser M (2010) Inferring continental ancestry of Argentineans from autosomal, Y-chromosomal  and mitochondrial DNA. Annals of Human Genetics, 74:65-76.
  • Lao O, Vallone PM, Coble MD, Diegoli TM, van Oven M, van der Gaag KJ, Pijpe J, de Knijff P, and Kayser M (2010) Evaluating self-declared ancestry of U.S. Americans with autosomal, Y-chromosomal and mitochondrial DNA. Human Mutation, 31(12): E1875–E1893