Fusion of the SUMO/Sentrin-specific protease 1 gene SENP1 and the embryonic polarity-related mesoderm development gene MESDC2 in a patient with an infantile teratoma and a constitutional t(12;15)(q13;q25)

Hum Mol Genet. 2005 Jul 15;14(14):1955-63. doi: 10.1093/hmg/ddi200. Epub 2005 May 25.

Abstract

Recently, we identified a patient with an infantile sacrococcygeal teratoma and a constitutional t(12;15)(q13;q25). Here, we show that, as a result of this chromosomal translocation, the SUMO/Sentrin-specific protease 1 gene (SENP1) on chromosome 12 and the embryonic polarity-related mesoderm development gene (MESDC2) on chromosome 15 are disrupted and fused. Both reciprocal SENP1-MESDC2 (SEME) and MESDC2-SENP1 (MESE) fusion genes are transcribed in tumor-derived cells and their open reading frames encode aberrant proteins. As a consequence of this, and in contrast to wild-type (WT) MESDC2, the translocation-associated SEME protein is no longer targeted to the endoplasmatic reticulum, leading to a presumed loss-of-function as a chaperone for the WNT co-receptors LRP5 and/or LRP6. Ultimately, this might lead to abnormal development and/or routing of germ cell tumor precursor cells. SUMO, a post-translational modifier, plays an important role in several cellular key processes and is cleaved from its substrates by WT SENP1. Using a PML desumoylation assay, we found that translocation-associated MESE proteins exhibit desumoylation capacities similar to those observed for WT SENP1. We speculate that spatio-temporal disturbances in desumoylating activities during critical stages of embryonic development might have predisposed the patient. Together, the constitutional t(12;15)(q13;q25) translocation revealed two novel candidate genes for neonatal/infantile GCT development: MESDC2 and SENP1.

MeSH terms

  • Animals
  • Blotting, Southern
  • Cell Line
  • Cell Polarity*
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 15*
  • Cricetinae
  • Cysteine Endopeptidases
  • DNA Primers
  • Endopeptidases / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Molecular Chaperones / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Subcellular Fractions / metabolism
  • Teratoma / genetics*
  • Translocation, Genetic*

Substances

  • DNA Primers
  • MESD protein, human
  • Molecular Chaperones
  • Endopeptidases
  • SENP1 protein, human
  • Cysteine Endopeptidases