Roles of retrovirus-derived PEG10 and PEG11/RTL1 in mammalian development and evolution and their involvement in human disease

Hirosuke Shiura; Moe Kitazawa; Fumitoshi Ishino; Tomoko Kaneko-Ishino

doi:10.3389/fcell.2023.1273638

Roles of retrovirus-derived PEG10 and PEG11/RTL1 in mammalian development and evolution and their involvement in human disease

Front Cell Dev Biol. 2023 Sep 29:11:1273638. doi: 10.3389/fcell.2023.1273638. eCollection 2023.

Authors

Hirosuke Shiura¹, Moe Kitazawa², Fumitoshi Ishino³, Tomoko Kaneko-Ishino⁴

Affiliations

¹ Faculty of Life and Environmental Sciences, University of Yamanashi, Yamanashi, Japan.
² School of BioSciences, Faculty of Science, The University of Melbourne, Melbourne, VIC, Australia.
³ Institute of Research, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
⁴ Faculty of Nursing, School of Medicine, Tokai University, Isehara, Kanagawa, Japan.

Abstract

PEG10 and PEG11/RTL1 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 PEG10 and PEG11/RTL1 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.

Keywords: PEG10; PEG11/RTL1; brain; genomic imprinting; human disease; innate immunity; mammalian development and evolution; placenta.

Publication types

Review

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work is supported by the Fund for the Promotion of joint International Research (19KK0182) from Japan Society for the Promotion of Science (JSPS) to HS, MK-F, FI and TK-I. Grant in Aid for Scientific Research (C) (23K05588) and the NOVARTIS Foundation (Japan) for the Promotion of Science to HS.