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Mtdna and Y-Chromosome Diversity in Aymaras and Quechuas from Bolivia: Different Stories and Special Genetic Traits of the Andean Altiplano Populations

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Mtdna and Y-Chromosome Diversity in Aymaras and Quechuas from Bolivia: Different Stories and Special Genetic Traits of the Andean Altiplano Populations TTHHÈÈSSEE En vue de l'obtention du DOCTORAT DE L’UNIVERSITÉ DE TOULOUSE Délivré par Université Toulouse III (UT3 Paul Sabatier) Discipline ou spécialité : Anthropologie génétique Présentée et soutenue par GAYÀ-VIDAL Maria Magdalena Le 26 Septembre 2011 Titre : Genetic characteristics of the two main Native groups in Bolivia: Aymaras and Quechuas. JURY LARROUY Georges, Professeur émérite HERNANDEZ Miguel, Directeur de Recherche FRANCALACCI Paolo, Directeur de Recherche GARCIA MORO Clara, Directeur de Recherche GIBERT Morgane, Chargé de Recherche PEREIRA SANTOS Cristina, Chargé de Recherche CALO Carla Directeur de Recherche Ecole doctorale : Biologie Santé Biotechnologie Unité de recherche : Anthropologie Moléculaire et Imagerie de Synthèse, UMR 5288 Directeur(s) de Thèse : DUGOUJON Jean-Michel, MORAL Pedro Rapporteurs : VARESI Laurent, CALO Carla Als meus pares, na Rosa i en Raimon “Homo sum; humani nil a me alienum puto”: « Sóc un home i res del que és humà m’és aliè » Terenci "Une chose surtout donne de l'attrait à la pensée des hommes : c’est l'inquiétude." « Sobretot una cosa fa suggestiu el pensament humà: la inquietud» Anatole France “No es faria ja cap altre descobriment si ens conforméssim amb el que ja sabem.” Lucio Anneo Sèneca Acknowledgements Barcelona, 11 June, 2011 After all these years, I have had the opportunity to work in different laboratories, get to know new people, some of them are true friends. I appreciate all the support of those that have always been encouraging me. First of all, I want to thank my supervisors, Dr. Pedro Moral and Dr. Jean- Michel Dugoujon. I am very grateful to Dr. Dugoujon for offering me the opportunity to work with an Aymara population for my Erasmus project several years ago, giving me such an amazing project and keeping me in contact with the lab of Toulouse. When I first arrived in Toulouse it was impossible for me to think that after all these years I would be so attached to this subject that has fascinated me and to the “ville rose” that has given me a lot and where I have lived unforgettable moments. Merci beaucoup pour m’avoir dirigé la thèse avec compréhension et patience. I want to express a special acknowledge to Pedro with whom I have worked most of the time and who has always been available whenever I needed help. Thank you for always encouraging me, even in the most difficult moments. Me has enseñado mucho tanto en el aspecto humano como profesional, muchas gracias. I would also like to thank all the people of both labs, at Moral’s lab: Esther, Marc, Emili, Robert, Ares, Josep and Magda R, thanks for all your advice, help, exchange of ideas, jokes, conversations, coffee breaks, and everything that makes the work fun, you are the best company I could ever had. I want to especially thank PhD Athanasiadis (bazinga!) that has helped me a lot during all these years, always with a smile. No encuentro “ni una sola palabra” para expresar mi agradecimiento, gracias por tu amistad. I want also thank the master’ students, Albert and Irene, and the visitors from other countries who have helped to break the routine of the lab, Wifak, Laura P, Daniela. Also, many thanks to the Moral people I met throughout these years: Toni, Neus V, Natalia, Meri. Thanks to rest of the people from the “Unitat d’Antropologia”, Mireia, Neus M and Marta, the Lourdes’ group (Bàrbara, Araceli, Mar, Sílvia, Marina, Ximena, etc.), the people from the other coin of the lab, Jordi, Bea, Ferràn, Laura, Mohammed, Andrés, and, of course, I want to thank all the bosses, Lourdes, Clara, Miquel, Alejandro, Daniel, and Txomin. Moltes gràcies també al Dr. Pons pel seu bon humor. All of you are the main reason that I have really enjoyed to work in our lab all these years. Although I have been more time in Barcelona than in Toulouse, I know that I have good friends there. At the lab of Toulouse, I would like to thank the PhD students I met when I arrived as an Erasmus student, Stéphane (I remember him encouraging me when I was trying my pulse not to trembling too much when charging a gel) and Clotilde for her patience and good explanations. The following years I met Harilanto, Nicolas, Nancy, Laure, Beatriz (another visitor, “la otra españolita”); in addition to their good company in and outside the lab, they have always helped me a lot to solve the “distance” issue. It’s a pleasure to know that I have such good colleagues and friends over there. I want to thank also Mr. Larrouy, Denise L, Line H, André S, Morgane G, Eveline G, Cathie T, and especially to Mr. Crubézy who accepted me for doing my Erasmus’ stage at the lab. Merci beaucoup à tous pour me permettre partager une partie de ma thèse avec vous dans un laboratoire où je me suis sentie comme chez mois, pour votre convivialité, et bien sûr, pour tous les “ apéros”. I can not forget the three-moth stay in London. I am very grateful to Dr. Andrés Ruiz-Linares from the UCL for accepting me at his lab and making me feel like home. There, I meet Barbara, Tábita, Karla, Andrés, Desmond, Mari-Wyn, many thanks for sharing all those moments with me, without you that stay would have not been the same. From outside the labs I have received a lot of support throughout these years from all my friends. In Barcelona, thanks to Clara, Maite, Marta, Ana, Diana, Laura G, Sergi, Laura S, Sílvia, for listening to me, and being comprehensive when I am stressed (only good friends can do that!). From Mallorca, I want to thank Marga S, Marga G and Vicky for their true friendship. Also I want to thank my class mates from the Bioinformatics master, for their help and support during these last months, Yorgos of course, José Luis, Pascal, David, etc. Finally, and the most important of all, I want to thank my family, my parents (Rosa and Raimon), and my sister Mia for all their support and courage they have given to me. Moltes gràcies a tots tres per sempre animar-me i estar al meu costat donant-me tant d’amor, fent que tot aquest camí fos més fàcil; and special thanks to Jose, for his help and lots of patience. Gràcies per compartir amb mi els moments més difícils, però també els més feliços, com aquest. TABLE OF CONTENTS FOREWORD...................................................................................................... 5 KEYWORDS ...................................................................................................... 6 INTRODUCTION................................................................................................ 7 I.1. The place...............................................................................................................................................7 I.1.1 The Americas ..................................................................................................................................7 I.1.2 The central Andes ...........................................................................................................................8 I.1.3 Bolivia.............................................................................................................................................9 I.2. Brief history of Native Americans: archaeological and historical records. ..................................10 I.2.1 The first Americans.......................................................................................................................10 I.2.2 The central Andean region ............................................................................................................11 I.2.3 Bolivia...........................................................................................................................................19 I.2.4 Demographical Data......................................................................................................................20 I.3 Linguistic data.....................................................................................................................................21 I.3.1 The Americas ................................................................................................................................21 I.3.2 South America...............................................................................................................................23 I.3.3 The central Andes .........................................................................................................................23 I.3.3.1 Quechua.................................................................................................................................25 I.3.3.2 Aymara ..................................................................................................................................26 I.3.3.3 Other minor languages ..........................................................................................................29 I.4 Other cultural and environmental aspects of the Andean populations..........................................31 I.4.1 Altitude environment ....................................................................................................................31 I.4.2 Economical organization...............................................................................................................32 I.4.3 Social organization........................................................................................................................33 I.5 Human genetic variation....................................................................................................................34 I.5.1 Human population genetics...........................................................................................................35
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