Understanding Inherited Disease through Human Migrations: A South-West Asian Perspective

Abstract

Mitochondrial DNA (mtDNA) and the Y chromosome are inherited in a haploid manner and have been used extensively to reconstruct human lineages. mtDNA and the majority of the Y chromosome lack recombination and show high rates of apparently neutral mutation. Here, we demonstrate how detailed analysis of these uniparental inherited markers can reveal general and more subtle population movements within south-west Asia. These include a major migration of modern humans from East Africa to western and southern Asia around 60,000 YBP, migrations of populations from the Fertile Crescent in south-western Iran to India approximately 8,000 YBP, and migrations of Indo-European speakers from Central and West Asia to India approximately 5,000 YBP. We highlight how the understanding of these, and other population movements, can be useful in tracing the dispersal of disease-causing mutant alleles, and how these data could be applied to predicting the segregation of mutant alleles within populations.