Study of human genetic diversity : inferences on population origin and history

Doctoral thesis English OPEN
Haber, Marc, 1980- (2013)
  • Publisher: Universitat Pompeu Fabra
  • Subject: Population genetics | Human migrations | Afghanistan | Levant | North Africa | SNPs | STRs | Genètica de poblacions | Migracions humanes | Afganistan | Llevant | Nord d'Àfrica | Cultura | Cromosoma Y | SNPs genòmics | Y-chromosome | Genome-wide | 575

Patterns of human genetic diversity suggest that all modern humans originated from a small population in Africa that expanded rapidly 50,000 years ago to occupy the whole world. While moving into new environments, genetic drift and natural selection affected populations differently, creating genetic structure. By understanding the genetic structure of human populations, we can reconstruct human history and understand the genetic basis of diseases. The work presented here contributes to the ongoing effort to catalogue human genetic diversity by exploring populations that have been underrepresented in genetic studies. We use variations on the genomes of populations from Central Asia, the Near East, and North Africa to reconstruct the history of these populations. We find that climate change and geography appear to be major factors shaping genetic diversity. In addition, we identify recent cultural developments and historical events that have influenced admixture and gene flow between populations, leading to the genetic diversity observed in humans today.
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