Laboratory of Mammalian Genetics, Centre for DNA Fingerprinting & Diagnostics (CDFD), Inner Ring Road, Uppal, Hyderabad, India.
Graduate studies, Manipal University, Manipal, India.
Epigenomics. 2019 Feb;11(3):251-266. doi: 10.2217/epi-2018-0060. Epub 2019 Jan 23.
To investigate the regulatory potential of the Nnat second intron within the Nnat/Blcap micro-imprinted domain.
MATERIALS & METHODS: Mice with deletion of Nnat second intron at the endogenous Nnat/Blcap micro-imprinted domain were used to examine the effect of Nnat second intron on the transcriptional regulation of the Nnat and Blcap genes.
RESULTS & CONCLUSION: Deletion of Nnat second intron affected Nnat expression in cis leading to the loss of Nnat expression from the active paternal allele. Nnat second intron was found to have the characteristics of an imprint control region including allele-specific DNA methylation and histone modifications and it also regulated the epigenetic profile of Nnat promoter by acting as an enhancer. Nnat second intron was also found to be regulating the expression of the Blcap transcripts.
研究 Nnat 第二内含子在 Nnat/Blcap 微印迹域内的调控潜能。
利用内源 Nnat/Blcap 微印迹域中缺失 Nnat 第二内含子的小鼠，来检测 Nnat 第二内含子对 Nnat 和 Blcap 基因转录调控的影响。
Nnat 第二内含子缺失影响了顺式中的 Nnat 表达，导致活性父本等位基因中 Nnat 的表达丧失。Nnat 第二内含子具有印迹控制区的特征，包括等位基因特异性 DNA 甲基化和组蛋白修饰，它还通过作为增强子调节 Nnat 启动子的表观遗传特征。Nnat 第二内含子也被发现调节 Blcap 转录本的表达。
