Intact piRNA pathway prevents L1 mobilization in male meiosis
Year: 2017
Type: article
Abstract: Significance Retrotransposons make up the bulk of the human genome and, if unleashed, threaten the genomic integrity through DNA damage and insertional mutagenesis. In germ cells, an intact PIWI-interacting RNA pathway is essential for suppressing the expression of L1 retrotransposons. Deficiencies in the PIWI-interacting RNA pathway have dire consequences because mutant males are invariably sterile. To address the role of retrotransposon activation in these mutants, we developed an L1 reporter transgenic mouse. This mouse model allowed us to detect significant and stage-specific increases of new insertions in mutant germ cells, to draw attention to the importance of other L1-related activities for germ-cell health, and to predict the timing and origin of heritable L1 insertions in the human population.
Language: English
Subfield: Plant Science
Domain: Life Sciences
Open Access status: green
Funders: National Institutes of Health, National Institute on Aging, National Institute of Mental Health, NIH Office of the Director, National Cancer Institute, National Institute of General Medical Sciences, National Institute of Child Health and Human Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: L1 Retrotransposon and Neural Diversity, Center for Pediatric Research, Investigating an Etiological Role of LINE-1 Retrotransposition in Birth Defects, Training in Biotechnology: Emphasis in Protein Chemistry, Novel Transgenic Mouse Models for L1 Retrotransposons in Development and Disease, G6521282668, Cellular and Molecular Biology, Center for Systems Biology of Retrotransposition, Center for Cancer Biology, Cancer Center Support Grant (CCSG), Role of Retrotransposon Activity in Neurodegeneration and Alzheimer's Disease
OpenAlex ID: W2659853895