Identification of rtl1, a retrotransposon-derived imprinted gene, as a novel driver of hepatocarcinogenesis

PLoS Genet. 2013 Apr;9(4):e1003441. doi: 10.1371/journal.pgen.1003441. Epub 2013 Apr 4.

Abstract

We previously utilized a Sleeping Beauty (SB) transposon mutagenesis screen to discover novel drivers of HCC. This approach identified recurrent mutations within the Dlk1-Dio3 imprinted domain, indicating that alteration of one or more elements within the domain provides a selective advantage to cells during the process of hepatocarcinogenesis. For the current study, we performed transcriptome and small RNA sequencing to profile gene expression in SB-induced HCCs in an attempt to clarify the genetic element(s) contributing to tumorigenesis. We identified strong induction of Retrotransposon-like 1 (Rtl1) expression as the only consistent alteration detected in all SB-induced tumors with Dlk1-Dio3 integrations, suggesting that Rtl1 activation serves as a driver of HCC. While previous studies have identified correlations between disrupted expression of multiple Dlk1-Dio3 domain members and HCC, we show here that direct modulation of a single domain member, Rtl1, can promote hepatocarcinogenesis in vivo. Overexpression of Rtl1 in the livers of adult mice using a hydrodynamic gene delivery technique resulted in highly penetrant (86%) tumor formation. Additionally, we detected overexpression of RTL1 in 30% of analyzed human HCC samples, indicating the potential relevance of this locus as a therapeutic target for patients. The Rtl1 locus is evolutionarily derived from the domestication of a retrotransposon. In addition to identifying Rtl1 as a novel driver of HCC, our study represents one of the first direct in vivo demonstrations of a role for such a co-opted genetic element in promoting carcinogenesis.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Cell Transformation, Neoplastic
  • Chromosomes, Human, Pair 14 / metabolism
  • Gene Expression Regulation, Neoplastic
  • Genomic Imprinting
  • Humans
  • Liver Neoplasms* / etiology
  • Liver Neoplasms* / genetics
  • Liver Neoplasms* / metabolism
  • Mice
  • Mutation
  • Pregnancy Proteins* / genetics
  • Pregnancy Proteins* / metabolism
  • Retroelements / genetics*
  • Transposases / metabolism

Substances

  • Pregnancy Proteins
  • RTL1 protein, human
  • Retroelements
  • Rtl1 protein, mouse
  • Transposases
  • sleeping beauty transposase, human