Despite being a crucial geographic area in deciphering human history, at the crossroad of Europe, Middle East and sub-Saharan Africa, there is a paucity of genetic data for North Africa, especially whole genome sequences from both modern and ancient DNAs.
We propose a scan entirely based on Next Generation Sequencing (NGS) technologies to provide a full description of the current genomic features of North Africa and to understand how they came into being, especially over the last 5,000 years, by analyzing people from both the present (living) and the past (ancient DNA from skeleton remains).
With the resulting baggage of data we aim at answering 5 major Research Questions (RQ), concerning population structuring, temporal genetic continuity, polygenic inheritance, adaptation to diet and evolution of immune and physical peculiarities.
We will survey large population samples for (a) whole genome sequences (WGS) and (b) sequence variation of the two non-recombining genetic systems: the male specific region of the Y chromosome (MSY), and the mitochondrial DNA (mtDNA).
The study will rely on genomic DNAs of modern individuals accumulated by the proposing labs over >30 years of activity, and from a vast collection of well-characterized archaeological material.
The expected results can be partitioned into proximate and ultimate. Proximate results refer to the description of variation resulting from the sequencing effort. Ultimate results refer to the achievement of firm conclusions on our 5 RQ’s.
Our final goal is to depict the genomics of North Africa and its genetic links with modern and ancient Europe, Middle East and sub-Saharan Africa, and how processes such as mutation, natural selection, drift, migration and admixture shaped it. The project’s results will have major implications for human genetics at large, and for a better understanding of the genetic architecture of health-related traits. Also, several disciplines such as archaeology, linguistics and storiography will benefit from this project.
The collected data will constitute an informative baggage to combat prejudice and discrimination by means of science-based dissemination of conclusions concerning the entire Mediterranean region.