Capturing the y chromosome diversity across specific european populations

Zusammenfassung

Europe is a rich combination of diversities, cultures, and populations. Roma is the largest ethnic minority of Europe, accounting for an estimated >10 million citizens, although no official census is available. In this thesis, sex-biased demographic processes in Roma people are introduced. The comparison of mitochondrial DNA and Y-chromosome sequences show that the Roma maternal genetic pool carries higher lineage diversity, both in the South Asian and European fractions. On the contrary, a single South Asian lineage dominates their paternal genetic landscape. The results of this project suggest that socio-cultural factors influenced the emergence of these patterns at global and local scales in the Roma. Uniparental genomes are especially suitable for kinship analyses, mixed DNA cases and geographical ancestry in forensic identifications. In this thesis, we analyze the uniparental sequences of the resident population in Catalonia, to analyze the potential of this data for forensic genetics. We proved the robustness of this type of data in unequivocal identifications and found that they provide higher resolution than previous markers. Lastly, we optimize and apply a target enrichment technique to capture the regions of the Y chromosome that are suitable for population genetics studies. As R1b-DF27 is the most frequent haplogroup in the Iberian Peninsula and has an interesting and debated history, we use the capture technique to refine its phylogeny and phylogeography.