Human mitochondrial DNA variation in Southern Italy

Area of Science:

• Population Genetics
• Human Evolutionary Studies
• Mediterranean Anthropology

Background:

• Southern Italy's historical significance as a Mediterranean cultural crossroads.
• Limited genetic data available for Basilicata and Calabria populations.
• Absence of published studies on mitochondrial DNA (mtDNA) variability in these regions.

Purpose of the Study:

• To analyze and compare mtDNA haplotypes from Basilicata, Calabria, and Sicily.
• To investigate the genetic relationships of Southern Italian populations with other Italian and Mediterranean groups.
• To understand the genetic landscape shaped by historical interactions.

Main Methods:

• Mitochondrial DNA (mtDNA) analysis of 341 individuals for haplogroup classification.
• Multivariate analysis to compare Southern Italian samples with other Mediterranean populations.
• Median-joining network analysis to elucidate relationships among major Southern Italian lineages.

Main Results:

• The haplogroup distribution in Southern Italy aligns with Western Eurasian mtDNA variability patterns.
• Comparative analysis indicates significant genetic homogeneity across the Mediterranean region.
• This homogeneity is likely attributed to extensive historical maritime interactions.

Conclusions:

• Southern Italy exhibits a typical mtDNA variability pattern characteristic of the Mediterranean basin.
• The region's genetic diversity may have been less impacted by the Late Glacial Maximum compared to other parts of Europe.
• mtDNA analysis confirms Southern Italy's unique position within the broader European genetic landscape.