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Epigenetic control of retrotransposon expression in human embryonic stem cells

Research output: Contribution to journalArticle

  • Angela Macia
  • Martin Muñoz-Lopez
  • Jose Luis Cortes
  • Robert K Hastings
  • Santiago Morell
  • Gema Lucena-Aguilar
  • Juan Antonio Marchal
  • Richard M Badge
  • Jose Luis Garcia-Perez

Related Edinburgh Organisations

Original languageEnglish
Pages (from-to)300-16
Number of pages17
JournalMolecular and Cellular Biology
Volume31
Issue number2
DOIs
Publication statusPublished - Jan 2011

Abstract

Long interspersed element 1s (LINE-1s or L1s) are a family of non-long-terminal-repeat retrotransposons that predominate in the human genome. Active LINE-1 elements encode proteins required for their mobilization. L1-encoded proteins also act in trans to mobilize short interspersed elements (SINEs), such as Alu elements. L1 and Alu insertions have been implicated in many human diseases, and their retrotransposition provides an ongoing source of human genetic diversity. L1/Alu elements are expected to ensure their transmission to subsequent generations by retrotransposing in germ cells or during early embryonic development. Here, we determined that several subfamilies of Alu elements are expressed in undifferentiated human embryonic stem cells (hESCs) and that most expressed Alu elements are active elements. We also exploited expression from the L1 antisense promoter to map expressed elements in hESCs. Remarkably, we found that expressed Alu elements are enriched in the youngest subfamily, Y, and that expressed L1s are mostly located within genes, suggesting an epigenetic control of retrotransposon expression in hESCs. Together, these data suggest that distinct subsets of active L1/Alu elements are expressed in hESCs and that the degree of somatic mosaicism attributable to L1 insertions during early development may be higher than previously anticipated.

    Research areas

  • Alu Elements, Animals, Cells, Cultured, Chromosome Mapping, Embryonic Stem Cells, Epigenesis, Genetic, Female, Fibroblasts, Humans, Long Interspersed Nucleotide Elements, Male, Mice, Promoter Regions, Genetic, Retroelements

ID: 25155984