Department of Human Genetics Genetic diversity at the frontier of Central and South Asia: investigating genetic origins and migrations in Chitral district of Pakistan

Chitral, a district in northern Pakistan’s Khyber Pakhtunkhwa province, lies in the Hindu Kush mountains at the crossroads of Central and South Asia. This strategic location has facilitated human genetic exchange for centuries. Despite its rich history, limited genetic studies have explored how past migrations shaped its present-day diversity. This study investigates Chitral’s genetic diversity and historical gene flow, focusing on five tribes: Dashmanay, Maxay, Machak, Shahmiray, and Zondray. A total of 100 individuals (19–21 per tribe) were sampled in Pakistan, with DNA extracted and sequenced at the University of Chicago. Genetic analysis includes mitochondrial DNA (mtDNA) and genome-wide autosomal DNA. mtDNA analysis examines matrilineal lineages, identifying shared and unique genetic signatures within and between tribes, as well as comparisons with global populations to trace migration patterns. Autosomal DNA analysis provides a broader view of genetic relationships among tribes and with global datasets. This research enhances our understanding of Chitral’s tribal genetic history and highlights the role of frontier zones in shaping human diversity.