Transcriptional regulation of human-specific SVAF₁ retrotransposons by cis-regulatory MAST2 sequences

Gene. 2012 Aug 15;505(1):128-36. doi: 10.1016/j.gene.2012.05.016. Epub 2012 May 15.


SVA elements represent the youngest family of hominid non-LTR retrotransposons. Recently, a human-specific subfamily (termed SVA(F1), CpG-SVA, or MAST2-SVA) was discovered representing fusion of the CpG island-containing exon 1 of the MAST2 gene and a 5'-truncated SVA. SVA(F1) includes at least 84 members, which suggests exceptionally high retrotransposition level. We investigated if the acquirement of the MAST2 CpG-island might play a role in the success of the SVA(F1) subfamily. We observed that in 16 samples representing seven human tissues, MAST2 was cotranscribed with the members of the SVA(F1) subfamily, but not with other retrotransposons. We found that the methylation status of the MAST2-derived sequences of SVA(F1) elements reversely correlates with the transcriptional activity of MAST2. The MAST2 sequence at the 5' end of SVA(F1) acts as a positive transcriptional regulator in human germ cells. Finally, in various testicular tissue samples we uncovered a transcriptional correlation of MAST2 with the human L1, Alu and SVA retrotransposons.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • CpG Islands / physiology*
  • Exons / physiology*
  • Germ Cells / metabolism
  • Humans
  • Male
  • Microtubule-Associated Proteins / genetics*
  • Microtubule-Associated Proteins / metabolism
  • Protein Serine-Threonine Kinases / genetics*
  • Protein Serine-Threonine Kinases / metabolism
  • Regulatory Elements, Transcriptional / physiology*
  • Retroelements / physiology*
  • Testis / metabolism
  • Transcription, Genetic / physiology*


  • Microtubule-Associated Proteins
  • Retroelements
  • MAST2 protein, human
  • Protein Serine-Threonine Kinases