DLK1-DIO3印记域定位于人14号染色体、小鼠12号染色体及绵羊18号染色体远端, 在真哺乳亚纲动物中印记保守。该印记域包含3个编码蛋白的父系表达基因Dlk1、Rtl1和Dio3以及若干大小不同的母系表达印记非编码RNA, 如miRNAs、snoRNAs 和大型非编码RNA Gtl2等。人和小鼠该印记域内印记基因剂量的改变将导致严重的表型异常甚至胚胎致死, 暗示正常的发育需要域内印记基因的正常表达。文章重点论述了哺乳动物DLK1-DIO3印记域的印记调控机制和域内印记基因及其功能的研究进展。
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.
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