Zhao Li-Xia, Zhao Gao-Ping, Zhou Huan-Min
College of Biotechnology and Bioengineering, Inner Mongolia Agricultural University, Huhhot, China.
Yi Chuan. 2010 Aug;32(8):769-78. doi: 10.3724/sp.j.1005.2010.00769.
The mammalian imprinting domain DLK1-DIO3 is located on distal human chromosome 14, mouse chromosome 12 and sheep chromosome 18. This cluster contains three imprinted protein-coding genes (Dlk1, Rtl1, and Dio3), which were expressed from the paternally inherited chromosome and several imprinted noncoding RNA genes expressed from the maternally inherited allele, such as miRNAs, snoRNAs, and large noncoding RNA Gtl2. The altered gene dosage of DLK1-DIO3 cluster resulted in several severe abnormal phenotypes in human and mouse, even death, suggesting the importance of these genes for normal development. This review focuses on the function of imprinted genes on this domain and the mechanism of their imprinting regulation.
哺乳动物印记区域DLK1-DIO3位于人类14号染色体远端、小鼠12号染色体和绵羊18号染色体上。该基因簇包含三个印记蛋白编码基因（Dlk1、Rtl1和Dio3），它们从父系遗传的染色体上表达，还有几个从母系遗传的等位基因上表达的印记非编码RNA基因，如miRNA、snoRNA和大型非编码RNA Gtl2。DLK1-DIO3基因簇的基因剂量改变在人类和小鼠中导致了几种严重的异常表型，甚至死亡，这表明这些基因对正常发育的重要性。本文综述聚焦于该区域印记基因的功能及其印记调控机制。
