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Genetic Profile of Western Mediterranean Populations: Contribution of Arab and Jewish Groups

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Genetic Profile of Western Mediterranean Populations: Contribution of Arab and Jewish Groups Universitat de les Illes Balears GENETIC PROFILE OF WESTERN MEDITERRANEAN POPULATIONS: CONTRIBUTION OF ARAB AND JEWISH GROUPS Kaoutar Bentayebi Ph D Thesis, 2012 Universitat de les Illes Balears GENETIC PROFILE OF WESTERN MEDITERRANEAN POPULATIONS: CONTRIBUTION OF ARAB AND JEWISH GROUPS Thesis submitted by Miss Kaoutar Bentayebi to aspire to the degree of Doctor in Biotechnology, Genetics and Cellular Biology (at the University of Balearic Islands) and in Biology (at the Mohamed V-Agdal University) Thesis supervisors: Dr. Antònia Picornell Rigo and Dr. Saaid Amzazi Dr. Antònia Picornell Rigo Dr. Saaid Amzazi Kaoutar Bentayebi Rabat-Palma de Mallorca 2012 ABSTRACT RESUME Ce travail décrit la diversité génétique des populations ouest-méditerranéennes actuelles à travers deux polymorphismes : neufs marqueurs Alus et douze microsatellites (STR) présents au niveau du chromosome X. Dans ce travail, des résultats originaux de populations Marocaines, Espagnoles, sud Italiennes et de populations Juives sont présentés. Notre étude multidisciplinaire s’appuie sur des données biologiques, archéologiques, historiques, géographiques et linguistiques pour retracer les origines et l’histoire génétique des populations ouest-Méditerranéennes. Pour l’ensemble des marqueurs, nos résultats montrent une proximité génétique entre les populations Nord Africaines et les populations du sud-ouest de l’Europe mais une différenciation entre les groupes nord-africains et sub-sahariens. Aussi, nous constatons qu’au nord-ouest de l’Afrique, aucune importante différenciation génétique entre les Berbères et les Arabes n’apparait. L’analyse de cinq populations juives les a groupé dans un même cluster, témoignant de leur origine ancestrale commune qu’il ont conservé à travers le temps malgré la Diaspora, avec une nette distinction entre eux et leurs voisins non-juifs. MOTS-CLEFS Ouest Méditerranéenne, Anthropologie, génétique des populations, Forensique Génétique, Arabes, nord de l’Afrique, Diaspora juive, polymorphismes génétiques, STR, Alu, linguistique, histoire génétique, peuplement, Iles Baléares. RESUMEN Este trabajo describe la diversidad genética de las poblaciones actuales del Oeste del Mediterráneo según dos polimorfismos: nueve polimorfismos Alus y doce microsatelites (STR) presente en el cromosoma X. En este trabajo, se presentan resultados originales de poblaciones de Marruecos, España, sur de Italia y de poblaciones judías. Nuestro estudio multidisciplinario se basa sobre datos biológicos, arqueológicos, históricos, geográficos y lingüísticos para reconstruir los origines y la historia genética del oeste del Mediterráneo. Para la totalidad de los marcadores, nuestros resultados muestran una proximidad genética entre las poblaciones del norte de África y del sur de Europa con una diferencia entre los grupos norte africanos y sub- i ABSTRACT saharianos. También se puede concluir que en el noroeste de África, no hay una fuerte diferenciación genética entre los beréberes y los árabes. .El análisis de cinco poblaciones judías muestra que se agrupan en un mismo cluster, indicando su ancestral común origen, que se ha conservado durante el tiempo a pesar de la diáspora, con una clara distinción entre ellos y sus vecinos no-judíos. PALABRAS CLAVES Oeste del Mediterráneo, Antropología, genética de población, genética forense, Árabes, Norte de África, Diáspora judía, polimorfismos genéticos, STR, Alu, lingüístico, historia genética, población, Islas Baleares. ABSTRACT This research describes the genetic diversity of current Western Mediterranean populations through two polymorphisms: nine Alus polymorphisms and twelve Short Tandem Repeats (STR), located in the X chromosome. Original results are presented for populations from Morocco, Spain, South of Italy and Jewish Diaspora. Our multidisciplinary study is based on biological, archaeological, historical, geographical and linguistic data in order to track the roots of the Western Mediterranean origins and genetic history. For all markers, our results show that the North African are genetically close to European populations but differentiated from sub-Saharan groups. Furthermore, we notice that in North-West Africa, there isn’t any striking genetic differentiation between Berber and Arabic. The analysis of five Jewish populations plotted them in the same cluster, arguing for their shared ancestral origins that they conserved over time despite the Diaspora, with a clear distinction found between them and their non-Jewish neighbors KEY WORDS Western Mediterranean, Anthropology, Population Genetics, Forensic Genetics, Arabic, North Africa, Jewish Diaspora, genetic polymorphisms, STR, Alu, linguistics, genetic history, settlement, Balearic Islands. ii A mes chers parents…. A la mémoire de Papy…. A ma famille et ami(e)s… iii iv PREFACE The present work was supported by an Averroes fellowship, which was awarded to me in my last two years. This has led to the collaboration and the co-supervision of my PhD work through Université Mohammed V - Agdal and Universidad de las Islas Baleares. In this context, I would like here first to convey my heartfelt thanks to both Universities for offering me an ideal environment in which I felt free and could concentrate on my research. I am grateful for all the institutions and co-authors for their help, availability and orientation that made my PhD Work and publication possible: My supervisors “Dr. Saaïd AMZAZI and Dr. Antònia PICORNELL”, Dr. Misericòrdia Ramon, Dr. José Aurelio, Dr. Driss Squalli, Dr. Anna Barbaro, Mehdi Bouabdellah and Rachid Aboukhalid. Indeed, this work leads to the following publications: Published papers Bentayebi K , Picornell A, Amzazi S. Genetic Diversity: New research: Chapter 5: Genetic History of Morocco. Novapublishers. USA. 2012. Bentayebi K , PicornellA ,Bouabdeallah M, Castro J A, Aboukhalid R , Squalli D, Misericordia MM , Amzazi S: Genetic Diversity of 12 X-chromosomal short tandem repeats in the Moroccan population, Forensic Sci. Int. Gent . 2012. 6: e48-e49. Bentayebi K , Ramon MM, Castro JA, Barbaro A, Aboukhalid R, Amzazi S and Picornell A. Inferring ethnicity from the X-chromosome ALU insertions: data from Western Mediterranean human groups, Forensic Sci. Int. Gent. Supp Series. 2011: e27- e28. Picornell A, Bentayebi K , Bouabdeallah M, Castro JA, Bouabdellah M, Squalli D, Misericordia M, Amzazi S. X-chromosomal haplotype frequencies of four linkage groups in a North african population, Forensic Sci. Int. Gent . Supp Series. 2011, e19-e20. v PREFACE Aboukhalid R, Bouabdellah M, Abbassi M, Bentayebi K , Elmzibri M, Squalli D, Amzazi D, Amzazi S. Haplotype frequencies for 17 Y-STR loci (AmpFISTR Y-filer) in a Moroccan population sample. Forensic Sci. Int. Gent. 2009. 4: e73-e74. Aboukhalid R, Bouabdellah M, Lai R, Bradford N, EL Ossmani H, Talbi J, Bentayebi K, Squalli D, Podini D and Amzazi S. Y chromosomal SNP analysis using the minisequencing strategy in a Moroccan population samples. Journal of forensic research .2010.1 (2). 1000113. Submitted papers Aboukhalid R, Andreaggi KS, Bouabdellah M, Bentayebi K , El Mzibri M, Squalli D, Irwin J.A, and Amzazi S. Mitochondrial DNA control region variation from samples of the Moroccan population.ForensicSciInt Gent. 2012. Submitted paper. Current papers Bentayebi K , Ramon M.M, Castro J.A, Barbaro A, Aboukhalid R, Amzazi S and Picornell A. Populationgenetic inference from X chromosome Alu insertions in Western- Mediterranean region ( current ). Bentayebi K* , Ferragut JM*, Castro JA, Ramon MM, Amzazi S, Picornell A (* both authors contributed equally to this work).Gene Pool Structure of Jewish people as Inferred from the X-Chromosome ( current ). Ferragut JM*, Bentayebi K* , Castro JA, Ramon MM, Amzazi S, Picornell A (* both authors contributed equally to this work).Gene Diversity in Balearic Islands Genetic Isolates and Valencia using Argus X-12 STR (current ). Bentayebi K, Picornell A, Bouabdeallah M, Castro JA, Aboukhalid R, Squalli D, Ramon MM, Amzazi S : Genetic analysis of 18 X chromosomal SNP in the Moroccan population (in preparation ). Bouabdellah M, Bentayebi K et al. 48 autosomal Single nucleotide Polymorphisms for Moroccan Population studies and Forensic applications(in peparetion ). vi PREFACE International Communications Participation by two posters entitled « Inferring ethnicity from the X-chromosome ALU insertions: data from Western Mediterranean human groups » and “ X- chromosomal haplotype frequencies of four linkage groups in a North african population ” at24th Congress of the International Society for Forensic Genetics in Vienna, Autria: 29-03 Sep (2011). Participation by a poster entitled “Haplotype frequenies for 17 Y-STR loci (AmpFISTRYfilerTM) in a moroccan population sample " at the 23 th Congress of the International Society for Forensic Genetics in Puerto Madero, Buenos Aires, Argentina: 14-18 Sep (2009). Participation by a poster entitled « Haplotypefrequencies for 17 Y-STR loci (AmpFlSTR®Y-filerTM) in a Moroccanpopulation sample» at the 4 th international congress of genetics and molecular biology and the 4 th International Congress of Biotechnology, Ouarzazat, Morocco: 05-08 Nov (2008). Patrimony Morocco is like a tree, whose roots lie in Africa, but whose leaves breathe in European air. (Le Maroc est comme un arbre, dont les racines se situent en Afrique, mais dont les feuilles en air europeen.) —King Hassan II of Morocco (ruled 1961-1999) vii PREFACE viii Acknowledgement Pursuing a Ph.D. project is both painful and enjoyable experience. It’s just like climbing
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