In view of its medical implications, which will be seen elsewhere, and in the light of high-throughput genomic sequencing, this project proposes an expert re-reading of the molecular genetics of immunogenic polymorphisms (erythrocyte blood group systems and systems involved in the immune response) in order to contribute to the understanding of the history and evolution of modern humans, as well as to the evolutionary history of these genes in order to outline their phylogeny.
This project is based on the continuous acquisition of knowledge and data accumulated in paleoanthropology, paleo genomics (with notably the ancient genomes of sapiens as well as Neandertal and Denisova), in genetics of current populations as well as in functional biology for the study of the interactions of these markers with the environment, in particular infectious ones, as well as on the availability of molecular biology tools (PCR, NGS, dPCR, RT-PCR, RNAseq) within our unit.
The study will focus on erythrocyte blood group genes, for which new systems have recently been discovered, as well as genes involved in part of the immune response such as the HLA (Human Leukocyte Antigen) system, KIR (Killer Immunoglobulin Receptor), LILR (leukocyte immunoglobulin-like receptor), MICA (MHC class I chain-related gene A) and HPA (Human Platelet receptor). The structuring of haplotypes and pseudogenes of these complex multigenic families will be analyzed, as well as the possibility that some of these alleles have an archaic origin and have been introduced by introgression into modern genomes.
This project is led by Julie Di Cristofaro (PhD, HDR, CR EFS), Stéphane Mazières (PhD, HDR, CR CNRS), Christophe Picard, (MD, PhD, HDR, EFS) and Jacques Chiaroni (PUPH, MD, PhD, HDR), with the support of Sophie Beley (Research Assistant EFS). This project will be the object of an inter-team collaboration (BONES team) within the unit, around the study of the genomes of archaic species. In addition, this work benefits from external collaborations, in particular with the Mesocentre computing center, future collaborations with UMR5174 EDB and the University of Madrid, with the unit of Lluis Quintana Murci of the Institut Pasteur (Duffy Project) and partnerships with the companies Xegen and Acobiom, specialized in the analysis of NGS data.