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Article

Copy Number Variation Is a Fundamental Aspect of the Placental Genome

1 May 2014

Abstract excerpt

Discovery of lineage-specific somatic copy number variation (CNV) in mammals has led to debate over whether CNVs are mutations that propagate disease or whether they are a normal, and even essential, aspect of cell biology. We show that 1,000 N polyploid trophoblast giant cells (TGCs) of the mouse placenta contain 47 regions, totaling 138 Megabases, where genomic copies are underrepresented (UR). UR domains...

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PMID: 24785991
DOI: 10.1371/journal.pgen.1004290

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