Ontogenetic Pleiotropy of Genes Involved in CNVs in Human Spontaneous Abortions
Using chromosome microarrays analysis, 52 samples of placental tissues from the first trimester human spontaneous abortions were examined. One hundred and twenty copy number variations (CNVs) were identified, affecting one or more genes (total 427 genes). Using the enrichment analysis with the Mammalian Phenotype ontology all genes were divided into 183 categories (p ≤ 0.05). The Embryogenesis category included 22 genes: AIP, BMP4, BMP5, CDKN1C, EXT1, GAB1, H19, HOXD13, IGF2, KIT, LDHA, NKX2-5, NRK, PEG3, PHLDA2, SMCHD1, SMN1, TBX3, TGIF1, TH, TLX2, and TRR. In this paper, the functions of each of the above genes and pathological phenotypes associated with mutations in them are discussed. The hypothesis of the pleiotropic effect of genes involved in CNVs in spontaneous abortions has been proposed.