Autors: Toncheva D., Marinova, M. P., Chobanov T., Serbezov D.
Title: Pathogenic Variants Associated with Rare Monogenic Diseases Established in Ancient Neanderthal and Denisovan Genome-Wide Data
Keywords: ancient DNA; genome-wide data; monogenic diseases

Abstract: Ancient anatomically modern humans (AMHs) encountered other archaic human species, most notably Neanderthals and Denisovans, when they left Africa and spread across Europe and Asia ~60,000 years ago. They interbred with them, and modern human genomes retain DNA inherited from these interbreeding events. High quality (high coverage) ancient human genomes have recently been sequenced allowing for a direct estimation of individual heterozygosity, which has shown that genetic diversity in these archaic human groups was very low, indicating low population sizes. In this study, we analyze ten ancient human genome-wide data, including four sequenced with high-coverage. We screened these ancient genome-wide data for pathogenic mutations associated with monogenic diseases, and established unusual aggregation of pathogenic mutations in individual subjects, including quadruple homozygous cases of pathogenic variants in the PAH gene associated with the condition phenylketonuria in a ~120,000 year

References

    Issue

    Genes, vol. 14, issue 3, 2023, Switzerland, MDPI, DOI 10.3390/genes14030727

    Вид: статия в списание, публикация в издание с импакт фактор, публикация в реферирано издание, индексирана в Scopus