Relevance of genomic imprinting in intrauterine human growth expression of CDKN1C, H19, IGF2, KCNQ1 and PHLDA2 imprinted genes
Relevance of genomic imprinting in intrauterine human growth expression of CDKN1C, H19, IGF2, KCNQ1 and PHLDA2 imprinted genes
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DOI：
10.1007/s10815-014-0278-0
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发表时间：
2014-10-01
影响因子：
3.1
通讯作者：
Doria, Sofia
中科院分区：
文献类型：
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作者：
Cordeiro, Amilcar;Paula Neto, Ana;Doria, Sofia
研究印迹基因（CDKN1C、H19、IGF2、KCNQ1和PHLDA2）表达与人类胎儿生长的关系。从宫内生长受限（IUGR）胎儿和未生长受限的对照胎儿中提取RNA。使用RT-PCR评估CDKN1C、H19、IGF2、KCNQ1和PHLDA2基因的基因表达模式。还进行 MS-MLPA 评估染色体 11p15.5 上的 IC1 和 IC2 DNA 甲基化状态。根据胎盘或胎儿组织中的组织类型对样本进行划分。在每组内，对 IUGR 病例和对照进行比较。在 IUGR 病例中，在胎儿和胎盘组织组中均观察到 IGF2 下调。在另一种方法中，将样本分为 IUGR 组和对照组，并对每个组的胎盘和胎儿组织进行比较。在 IUGR 组中，胎盘样本中 CDKN1C、KCNQ1 和 PHLDA2 的调节上调。 IUGR 组在 IC1 和 IC2 中均表现出统计学上较低的甲基化状态。关于该组内胎儿和胎盘样本之间的差异，胎盘样本的甲基化状态在印记中心1（IC1）中统计显着下调。基因组印记是一种在胎儿和胎盘发育中发挥重要作用的现象。这项研究强调了妊娠期间印记基因的重要性。组织之间的差异可能反映了不同的机制，无论是补偿性的还是不利的，应该更详细地研究。
To study the relationship of imprinted gene expression (CDKN1C, H19, IGF2, KCNQ1 and PHLDA2) with human fetal growth.RNA was extracted from fetuses with intrauterine growth restriction (IUGR) and from the controls without growth restriction. The gene expression pattern of CDKN1C, H19, IGF2, KCNQ1 and PHLDA2 genes was evaluated using RT-PCR. MS-MLPA was also performed to assess the IC1 and IC2 DNA methylation status on chromosome 11p15.5.The samples were divided according to their tissue type in placental or fetal tissue. Within each group, IUGR cases and controls were compared. In the IUGR cases, in both fetal and placental tissue groups IGF2 was observed to be down regulated. In another approach, the samples were divided in IUGR and control groups and for each of them placental and fetal tissue was compared. Within the IUGR group up regulation of CDKN1C, KCNQ1, and PHLDA2 was determined in placental samples. IUGR group presented a statistically lower methylation status in both IC1 and in IC2. Regarding differences between fetal and placental samples within this group, methylation status of placental samples was statistically significant down regulated in the imprinting center 1 (IC1).Genomic imprinting is a phenomenon that plays an important role in fetal and placental development. This study emphasizes the importance of imprinted genes during pregnancy. Differences between tissues could reflect different mechanisms, either compensatory or adverse, that should be investigated in more detail.