Kaneda Masahiro, Takahashi Masashi, Yamanaka Ken-Ichi, Saito Koji, Taniguchi Masanori, Akagi Satoshi, Watanabe Shinya, Nagai Takashi
Division of Animal Life Science, Tokyo University of Agriculture and Technology, Tokyo 183-8509, Japan.
Department of Animal Science, Graduate School of Agriculture, Hokkaido University, Hokkaido 060-8589, Japan.
J Reprod Dev. 2017 Aug 19;63(4):365-375. doi: 10.1262/jrd.2017-040. Epub 2017 May 6.
Although more than 100 imprinted genes have already been identified in the mouse and human genomes, little is known about genomic imprinting in cattle. For a better understanding of these genes in cattle, parthenogenetically activated bovine blastocysts were transferred to recipient cows to obtain parthenotes, and fibroblasts derived from a Day 40 (Day 0 being the day of parthenogenetic activation) parthenogenetic embryo (BpEFs) were successfully obtained. Bovine embryonic fibroblasts (BEFs) were also isolated from a normal fertilized embryo obtained from an artificially inseminated cow. The expression of imprinted genes was analyzed by RT-PCR. Paternally expressed genes (PEGs) in mouse (viz., IGF2, PEG3, ZAC1, NDN, DLK1, SGCE, and PEG10) were expressed in BEFs, but not in BpEFs, suggesting that these genes are also imprinted in cattle. However, other PEGs in mouse (viz., IMPACT, MAGEL2, SNRPN, and PEG1/MEST) were expressed in both BEFs and BpEFs. These genes may not be imprinted in BEFs. The expression of seven maternally expressed genes in mouse was also analyzed, and only CDKN1C was not expressed in BpEFs. The DNA methylation patterns of repetitive elements (Satellite I, Satellite II, alpha-satellite, and Art2) were not different between the BEFs and BpEFs; however, the differentially methylated region (DMR) of paternally methylated H19 was hypomethylated, whereas those of maternally methylated PEG3 and PEG10 were hypermethylated in BpEFs, as expected. The methylation of the SNRPN DMR was not different between the BEFs and BpEFs, in accordance with the SNRPN expression levels in both cell types. The XIST gene, which is essential for X chromosome inactivation in females, was expressed in BpEFs, whereas its DMR was half-methylated, suggesting that X chromosome inactivation is normal in these cells. Microarray analysis was also applied to identify novel PEGs that should be expressed only in BEFs but not in BpEFs. More than 300 PEG candidate genes, including IGF2, PEG3, and PEG10, were obtained. These results illustrate the epigenetic characteristic of bovine parthenogenetic embryos and contribute to the identification of novel imprinted genes in cattle.
尽管在小鼠和人类基因组中已鉴定出100多个印记基因,但对牛的基因组印记却知之甚少。为了更好地了解牛的这些基因,将孤雌生殖激活的牛囊胚移植到受体母牛体内以获得孤雌生殖胚胎,成功获得了来自第40天(第0天为孤雌生殖激活日)孤雌生殖胚胎的成纤维细胞(BpEFs)。牛胚胎成纤维细胞(BEFs)也从人工授精母牛获得的正常受精胚胎中分离出来。通过RT-PCR分析印记基因的表达。小鼠中父本表达的基因(即IGF2、PEG3、ZAC1、NDN、DLK1、SGCE和PEG10)在BEFs中表达,但在BpEFs中不表达,这表明这些基因在牛中也是印记基因。然而,小鼠中的其他父本表达基因(即IMPACT、MAGEL2、SNRPN和PEG1/MEST)在BEFs和BpEFs中均有表达。这些基因在BEFs中可能没有印记。还分析了小鼠中7个母本表达基因的表达,只有CDKN1C在BpEFs中不表达。重复元件(卫星I、卫星II、α卫星和Art2)的DNA甲基化模式在BEFs和BpEFs之间没有差异;然而,父本甲基化的H19的差异甲基化区域(DMR)发生了低甲基化,而母本甲基化的PEG3和PEG10的DMR在BpEFs中如预期的那样发生了高甲基化。SNRPN DMR的甲基化在BEFs和BpEFs之间没有差异,这与两种细胞类型中SNRPN的表达水平一致。对雌性X染色体失活至关重要的XIST基因在BpEFs中表达,但其DMR发生了半甲基化,这表明这些细胞中的X染色体失活是正常的。还应用微阵列分析来鉴定仅应在BEFs中表达而不在BpEFs中表达的新的父本表达基因。获得了300多个父本表达基因候选基因,包括IGF2、PEG3和PEG10。这些结果说明了牛孤雌生殖胚胎的表观遗传特征,并有助于鉴定牛中的新印记基因。