Shiura Hirosuke, Kitazawa Moe, Ishino Fumitoshi, Kaneko-Ishino Tomoko
Faculty of Life and Environmental Sciences, University of Yamanashi, Yamanashi, Japan.
School of BioSciences, Faculty of Science, The University of Melbourne, Melbourne, VIC, Australia.
Front Cell Dev Biol. 2023 Sep 29;11:1273638. doi: 10.3389/fcell.2023.1273638. eCollection 2023.
and are paternally expressed, imprinted genes that play essential roles in the current eutherian developmental system and are therefore associated with developmental abnormalities caused by aberrant genomic imprinting. They are also presumed to be retrovirus-derived genes with homology to the sushi-ichi retrotransposon GAG and POL, further expanding our comprehension of mammalian evolution via the domestication (exaptation) of retrovirus-derived acquired genes. In this manuscript, we review the importance of and in genomic imprinting research via their functional roles in development and human disease, including neurodevelopmental disorders of genomic imprinting, Angelman, Kagami-Ogata and Temple syndromes, and the impact of newly inserted DNA on the emergence of newly imprinted regions. We also discuss their possible roles as ancestors of other retrovirus-derived RTL/SIRH genes that likewise play important roles in the current mammalian developmental system, such as in the placenta, brain and innate immune system.
以及是父系表达的印记基因，在当前真兽类发育系统中发挥着重要作用，因此与异常基因组印记导致的发育异常相关。它们也被推测为与寿一逆转座子GAG和POL具有同源性的逆转录病毒衍生基因，通过逆转录病毒衍生的获得性基因的驯化（功能改变）进一步扩展了我们对哺乳动物进化的理解。在本手稿中，我们通过它们在发育和人类疾病中的功能作用，包括基因组印记的神经发育障碍、天使综合征、加贺美-绪方综合征和坦普尔综合征，以及新插入DNA对新印记区域出现的影响，综述了它们在基因组印记研究中的重要性。我们还讨论了它们作为其他同样在当前哺乳动物发育系统中发挥重要作用的逆转录病毒衍生的RTL/SIRH基因祖先的可能作用，例如在胎盘、大脑和先天免疫系统中的作用。
