Population Genetics of Finno-ugric-speaking Humans in North Eurasia

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LIVING ON THE EDGE POPULATION GENETICS OF FINNO-UGRIC-SPEAKING HUMANS IN NORTH EURASIA Ville Nikolai Pimenoff Department of Forensic Medicine University of Helsinki Helsinki, Finland Departament de Ciències de la Salut i de la Vida Unitat de Biologia Evolutiva Universitat Pompeu Fabra Barcelona, Spain Academic dissertation To be publicly presented with the permission of the Medical Faculty of the University of Helsinki, in the lecture hall of the Department of Forensic Medicine on October 31s
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  LIVING ON THE EDGE POPULATION GENETICS OF FINNO-UGRIC-SPEAKINGHUMANS IN NORTH EURASIA Ville Nikolai Pimenoff  Department of Forensic MedicineUniversity of HelsinkiHelsinki, FinlandDepartament de Ciències de la Salut i de la VidaUnitat de Biologia EvolutivaUniversitat Pompeu FabraBarcelona, SpainAcademic dissertationTo be publicly presented with the permission of the Medical Faculty of theUniversity of Helsinki, in the lecture hall of the Department of Forensic Medicineon October 31 st 2008 at 12 o’clock noon.Helsinki 2008  Supervisors Professor Antti SajantilaUniversity of HelsinkiHelsinki, FinlandProfessor David ComasUniversitat Pompeu FabraBarcelona, Spain Reviewers Professor Ulf GyllenstenUniversity of UppsalaUppsala, SwedenProfessor Pekka PamiloUniversity of HelsinkiHelsinki, Finland Opponent Doctor Lluís Quintana-MurciInstitut Pasteur Paris, FranceISBN 978-952-92-4331-0 (paperback)ISBN 978-952-10-4913-2 (pdf)http://ethesis.helsinki.fiYliopistopainoHelsinki 2008  “We’ll never deal with the devils in the details unless we see the big picture.”Paul R. Ehrlich  Human Natures—Genes, Cultures,and the Human Prospect   CONTENTS LIST OF ORIGINAL PUBLICATIONS .............................................................................. 7 ABBREVIATIONS ........................................................................................................... 8 SUMMARY .................................................................................................................. 9 1 REVIEW OF THE LITERATURE ................................................................................... 101.1 Introduction ...................................................................................................... 101.1.1 Genetic characteristics of the Finno-Ugric-speaking population ........... 101.1.2 Sampling in human genetic studies and the concept of a population ..... 131.2 Organization of the Human Genome .............................................................. 131.2.1 General structure .................................................................................... 131.2.2 Variation in the Human Genome ............................................................ 141.2.3 Population processes shaping genetic variation ..................................... 151.2.4 Visualizing genomic variation ................................................................ 171.2.4.1 Molecular markers in human genetic studies ............................ 171.2.4.3 Special characteristics of the uniparental markers .................... 181.2.5 Linkage disequilibrium ........................................................................... 201.2.5.1 Processes shaping LD ................................................................ 201.2.5.2 Block structured genome, tagSNPs and LD mapping ............... 211.2.6 Human Genome Diversity and the HapMap project .............................. 22 2 AIMS OF THE PRESENT STUDY .............................................................................. 24 3 MATERIALS AND METHODS .................................................................................. 253.1 Samples ........................................................................................................... 253.2 Molecular data ................................................................................................ 253.3 Data analysis ................................................................................................... 26 4 RESULTS AND DISCUSSION .................................................................................... 274.1 Uniparental genetic landscape in North Eurasia (I, II) ................................... 274.2 Distribution of lactase persistence allele in North Eurasia (III) ..................... 294.3 Patterns of LD in CYP2C and CYP2D gene subfamilyregions in Europe (IV) .......................................................................................... 33 5 CONCLUSIONS AND FUTURE PERSPECTIVES ......................................................... 39 6 ACKNOWLEDGEMENTS .......................................................................................... 40 7 REFERENCES ............................................................................................................ 42
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