Modi Bhavi P, Washington Sonya, Walsh Scott W, Jackson-Cook Colleen, Archer Kellie J, Strauss Jerome F
Department of Human and Molecular Genetics, Virginia Commonwealth University, United States.
Department of Obstetrics and Gynecology, Virginia Commonwealth University, United States.
Placenta. 2017 Jan;49:1-9. doi: 10.1016/j.placenta.2016.11.002. Epub 2016 Nov 9.
Trisomy 21 (T21) is the most common chromosome abnormality in humans and is associated with a spectrum of phenotypes, including cognitive impairment, congenital heart defects and immune system defects. In addition, T21 is also associated with abnormalities of fetal membranes including chorioamniotic separation, delayed fusion of the chorioamniotic membranes, defects in syncytiotrophoblast formation, as well as amniocyte senescence. There is evidence indicating miRNAs encoded by sequences on chromosome 21 (Chr-21) are involved in several of the cognitive and neurological phenotypes of T21, but the role of Chr-21 derived miRNAs in fetal membrane abnormalities associated with T21 has not been investigated. In the current study, we determined the expression patterns of three miRNAs derived from a cluster on Chr-21 - hsa-miR-99a, hsa-miR-125b and hsa-let-7c in chorioamniotic membranes obtained from term pregnancies with spontaneous rupture (n = 20). Tissue and location specific expression patterns within the chorioamniotic membranes were identified. The rupture zone in the choriodecidua had distinct expression patterns compared to other fetal membrane locations. Despite the increased gene dosage associated with T21, the expression of all three miRNAs was reduced in cultured T21 amniocytes as compared to cultured euploid amniocytes. In silico analysis of experimentally validated targets of the three miRNAs suggest these Chr-21 derived miRNAs play a potential role in fetal membrane rupture and the fetal membrane defects associated with T21.
21三体综合征(T21)是人类最常见的染色体异常,与一系列表型相关,包括认知障碍、先天性心脏缺陷和免疫系统缺陷。此外,T21还与胎膜异常有关,包括绒毛膜羊膜分离、绒毛膜羊膜延迟融合、合体滋养层形成缺陷以及羊膜细胞衰老。有证据表明,21号染色体(Chr-21)上的序列编码的微小RNA(miRNA)参与了T21的几种认知和神经表型,但Chr-21衍生的miRNA在与T21相关的胎膜异常中的作用尚未得到研究。在本研究中,我们确定了来自Chr-21上一个簇的三种miRNA——hsa-miR-99a、hsa-miR-125b和hsa-let-7c在足月自然破裂妊娠(n = 20)的绒毛膜羊膜中的表达模式。确定了绒毛膜羊膜内组织和位置特异性的表达模式。与其他胎膜位置相比,绒毛膜蜕膜的破裂区有明显不同的表达模式。尽管与T21相关的基因剂量增加,但与培养的正常二倍体羊膜细胞相比,培养的T21羊膜细胞中所有三种miRNA的表达均降低。对这三种miRNA的实验验证靶点进行的计算机分析表明,这些Chr-21衍生的miRNA在胎膜破裂和与T21相关的胎膜缺陷中发挥潜在作用。