哺乳动物印记域DLK1-DIO3的研究进展

doi:10.3724/SP.J.1005.2010.00769

遗传 ›› 2010, Vol. 32 ›› Issue (8): 769-778.doi: 10.3724/SP.J.1005.2010.00769

哺乳动物印记域DLK1-DIO3的研究进展

赵丽霞¹, 赵高平², 周欢敏^{1, 2}

1. 内蒙古农业大学生物工程学院, 呼和浩特 010018; 2. 内蒙古农业大学动物科学与医学学院, 呼和浩特 010018

收稿日期:2009-10-27 修回日期:2010-01-09 出版日期:2010-08-20 发布日期:2010-08-23
通讯作者: 周欢敏 E-mail:huanminzhou@263.net

Review on the genomic imprinting at the mammalian DLK1-DIO3 cluster

ZHAO Li-Xia¹, ZHAO Gao-Ping², ZHOU Huan-Min ^{1, 2}

1. College of Biotechnology and Bioengineering, Inner Mongolia Agricultural University, Huhhot 010018, China; 2. College of Animal Science and Animal Medicine, Inner Mongolia Agricultural University, Huhhot 010018, China

Received:2009-10-27 Revised:2010-01-09 Online:2010-08-20 Published:2010-08-23
Contact: ZHOU Huan-Min E-mail:huanminzhou@263.net

摘要/Abstract

摘要： 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。

关键词: 印记调控区(ICR), DNA 甲基化, 非编码RNA, DLK1-DIO3, 印记

Abstract: 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.

Key words: imprinting control region (ICR), DNA methylation, noncoding RNA, imprinting, DLK1-DIO3

赵丽霞，赵高平，周欢敏. 哺乳动物印记域DLK1-DIO3的研究进展[J]. 遗传, 2010, 32(8): 769-778.

DIAO Li-Xia, DIAO Gao-Beng, ZHOU Huan-Min. Review on the genomic imprinting at the mammalian DLK1-DIO3 cluster[J]. HEREDITAS, 2010, 32(8): 769-778.

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哺乳动物印记域DLK1-DIO3的研究进展

Review on the genomic imprinting at the mammalian DLK1-DIO3 cluster

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