Sequence diversity of the uniparentally transmitted portions of the genome in the resident population of Catalonia

The non-recombining part of the Y chromosome (MSY) and the mitochondrial genome (mtDNA), are uniparentally transmitted portions of the genome that are a powerful tool to infer biogeographical origin, kinship or paternity, and even identification. In this study, the Genomics of Individuality group, at Institute of Evolutionary Biology (UPF-CSIC), in collaboration with the GCAT'Genomes for Life project (GCAT, IGTP), analyse and make public disclosure of the complete sequences of 808 mtDNA and 399 MSY from the GCAT cohort, sequenced in collaboration with Barcelona Supercomputing Centre (BSC). This dataset may serve as a reference database for further studies, due to the high quality of the data -(data are available upon request at the repository of EGA (web); and what's more interesting! It may contribute, to portrait the current population residing in Catalonia, regardless of their ancestry, explaining recent and ancient migrations https://doi.org/10.1016/j.fsigen.2022.102783 

Highlights

·Sequenced the whole mtDNA in 808 individuals, 8 Mb of Y chromosome in 399.

·Samples from population residing in Catalonia, regardless of ancestry.

·Increased informativeness over mtDNA control region or Y-STR haplotypes.

·Non-European sequences could represent recent or ancient migrations.

·22% of the individuals carry at least one heteroplasmic site in their mtDNA.

Keywords

mitochondrial DNA

Y-chromosome

whole uniparental sequences

genetic census

Catalonia