Mutational Processes Shaping the Genome in Early Human Embryos

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Mutational Processes Shaping the Genome in Early Human Embryos Thierry Voet, Joris R. Vermeesch  Cell  Volume 168, Issue 5, Pages 751-753 (February 2017) DOI: 10.1016/j.cell.2017.02.008 Copyright © 2017 Terms and Conditions

Figure 1 Models for the MdnCNV Mutator Phenotype The generation of multiple de novo copy number variants (MdnCNVs) may involve a stepwise accumulation of CNVs in gametogenesis and/or embryogenesis (i) or a single burst within the germline (not shown), the zygote (ii), or during the first cleavages with or without additional CIN-derived chromosome aberrations in the embryo (iii and iv, respectively). Inviable cells are selected out (“selection”). Thus, not every blastomere of a cleavage-stage embryo contributes to the fetal cell lineage, and as such, a mosaicism in the early embryo may still ultimately lead to a uniform genetic makeup in the adult (i and iii). Horizontal black bars represent the paternal and maternal genome with acquired de novo DNA gains (green). Cells of the same lineage are shown in the same colors. Cell 2017 168, 751-753DOI: (10.1016/j.cell.2017.02.008) Copyright © 2017 Terms and Conditions