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Control of LINE-1 Expression Maintains Genome Integrity in Germline and Early Embryo Development

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Abstract

Maintenance of genome integrity in the germline and in preimplantation embryos is crucial for mammalian development. Epigenetic remodeling during primordial germ cell (PGC) and preimplantation embryo development may contribute to genomic instability in these cells, since DNA methylation is an important mechanism to silence retrotransposons. Long interspersed elements 1 (LINE-1 or L1) are the most common autonomous retrotransposons in mammals, corresponding to approximately 17% of the human genome. Retrotransposition events are more frequent in germ cells and in early stages of embryo development compared with somatic cells. It has been shown that L1 activation and expression occurs in germline and is essential for preimplantation development. In this review, we focus on the role of L1 retrotransposon in mouse and human germline and early embryo development and discuss the possible relationship between L1 expression and genomic instability during these stages. Although several studies have addressed L1 expression at different stages of development, the developmental consequences of this expression remain poorly understood. Future research is still needed to highlight the relationship between L1 retrotransposition events and genomic instability during germline and early embryo development.

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Funding

This work was supported by Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq, Brazil; Grant number 204747/2018-0 to FBK), Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES, Brazil; Grant number 88887.371487/2019-00 to TSB), and the Stanley H. Kaplan Fund of the NYU Grossman School of Medicine (to DLK).

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  1. Department of Obstetrics and Gynecology, New York University Langone Medical Center, 462 1st Avenue, New York, NY, 10016, USA

    Fabiana B. Kohlrausch, Thalita S. Berteli, Fang Wang & David L. Keefe

  2. Departamento de Biologia Geral, Instituto de Biologia, Universidade Federal Fluminense, Niterói, RJ, Brazil

    Fabiana B. Kohlrausch

  3. Departamento de Ginecologia e Obstetrícia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brazil

    Thalita S. Berteli & Paula A. Navarro

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Kohlrausch, F.B., Berteli, T.S., Wang, F. et al. Control of LINE-1 Expression Maintains Genome Integrity in Germline and Early Embryo Development. Reprod. Sci. 29, 328–340 (2022). https://doi.org/10.1007/s43032-021-00461-1

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