IP: Dr. Antonio Salas Ellacuriaga

Resumen del proyecto: Mitochondrial DNA (mtDNA) is a marker commonly used in various fields of research, namely, forensic genetics, biomedicine, and molecular anthropology. In forensic research, the mtDNA test is mandatory when analyzing highly degraded samples or those containing any or low DNA amounts and/or also to establish matrilineal relationships. In population genetics, the mtDNA has been the most favorite marker among molecular anthropologist for investigating past demographic and admixture events and for inferring the origin of populations. There are also a number of pathologies where the mtDNA is directly involved, usually known as mtDNA diseases; but in addition, it is also though that the mtDNA is involved in a number of complex multi-factorial diseases. The analysis of the variability in populations is therefore of key importance in all these fields of research. Nevertheless, only minor parts of the genome are generally analyzed in these studies. We here proposed a project that consists of analyzing the variability of the mtDNA genome at the highest possible level of resolution, that is, the complete genomes, and at a population level in Spanish individuals. The applications of this project are multidisciplinary, apart from the obvious interest on the pure anthropological fields (inference of regional population relationships, admixture, etc), there is a noticeable interest on establishing a complete genome database for forensic purposes (e.g. haplotype estimation, tools for SNP screening) and explore the level of population stratification in the Spanish population for common disease population-based (cases-control) studies.

Entidad financiadora: Ministerio de Ciencia e Innovación