Kasak Laura, Rull Kristiina, Vaas Pille, Teesalu Pille, Laan Maris
Human Molecular Genetics Research Group, Institute of Molecular and Cell Biology, University of Tartu, Riia St. 23, Tartu 51010, Estonia.
1] Human Molecular Genetics Research Group, Institute of Molecular and Cell Biology, University of Tartu, Riia St. 23, Tartu 51010, Estonia [2] Department of Obstetrics and Gynaecology, University of Tartu, Puusepa St. 8, Tartu 51014, Estonia [3] Women's Clinic of Tartu University Hospital, Puusepa St. 8, Tartu 51014, Estonia.
Sci Rep. 2015 Feb 10;5:8342. doi: 10.1038/srep08342.
Placenta is a temporary, but indispensable organ in mammalian pregnancy. From its basic nature, it exhibits highly invasive tumour-like properties facilitating effective implantation through trophoblast cell proliferation and migration, and a critical role in pregnancy success. We hypothesized that similarly to cancer, somatic genomic rearrangements are promoted in the support of placental function. Here we present the first profiling of copy number variations (CNVs) in human placental genomes, showing an extensive load of somatic CNVs, especially duplications and suggesting that this phenomenon may be critical for normal gestation. Placental somatic CNVs were significantly enriched in genes involved in cell adhesion, immunity, embryonic development and cell cycle. Overrepresentation of imprinted genes in somatic duplications suggests that amplified gene copies may represent an alternative mechanism to support parent-of-origin specific gene expression. Placentas from pregnancy complications exhibited significantly altered CNV profile compared to normal gestations, indicative to the clinical implications of the study.
胎盘是哺乳动物妊娠期间一个临时但不可或缺的器官。就其基本性质而言，它表现出高度侵袭性的肿瘤样特性，通过滋养层细胞的增殖和迁移促进有效着床，并且在妊娠成功中发挥关键作用。我们推测，与癌症类似，体细胞基因组重排会受到促进以支持胎盘功能。在此，我们展示了人类胎盘基因组中拷贝数变异（CNV）的首次分析，结果显示存在大量的体细胞CNV，尤其是重复，这表明这种现象可能对正常妊娠至关重要。胎盘体细胞CNV在参与细胞黏附、免疫、胚胎发育和细胞周期的基因中显著富集。印记基因在体细胞重复中过度表达表明，扩增的基因拷贝可能代表一种支持亲本特异性基因表达的替代机制。与正常妊娠相比，来自妊娠并发症的胎盘显示出明显改变的CNV图谱，这表明了该研究的临床意义。
