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Project

The mutational landscape of in vivo and in vitro human embryogenesis

Early human preimplantation development is burdened with chromosome abnormalities. The remarkable genomic instability is predominantly cause by post-zygotic events, which contribute to chromosomal mosaicism. The presence of aneuploidy can be fatal to embryo, causing developmental arrest, implantation failure or adverse pregnancy outcomes. Due to its clinical relevance, the mechanisms and consequences of embryo aneuploidy are being intensively investigated. Our recent study in cattle demonstrated that in vitro manipulations exacerbate embryonic aneuploidy, as chromosomal anomalies in in vivo-derived embryos are much lower compared to in vitro ones. However, the data on general mutational load in human IVF embryos is lacking. It is also unclear what is the long-term impact of embryo early de novo somatic mutations in transmission genetics. This project will chart the mutational landscape of human preimplantation embryos and will investigate the potential impact of assisted reproductive technologies on frequency and nature of de novo genetic changes in first- and secondgeneration offspring. The transcriptional profile of early embryos will be mapped and correlated to embryo developmental competence. Overall, this study will provide unique insight on mutational burden in early embryogenesis and will contribute to improving the success rate of fertility treatment.
 

Date:1 Oct 2020 →  30 Sep 2023
Keywords:genome and transcriptome in early embryos, mutational load
Disciplines:Foetal development, Molecular diagnostics, Reproductive medicine, Embryology