Detailed mapping of the ERG-ETS2 interval of human chromosome 21 and comparison with the region of conserved synteny on mouse chromosome 16

Gene. 2004 Jan 7;324:65-77. doi: 10.1016/j.gene.2003.09.047.


We have carried out a detailed annotation of 550 kb of genomic DNA on human chromosome 21 containing the ERG and ETS2 genes. Comparative genomic analysis between this region and the interval of conserved synteny on mouse chromosome 16 indicated that the order and orientation of the ERG and ETS2 genes were conserved and revealed several regions containing potential conserved noncoding sequences. Four pseudogenes including those for small protein G, laminin receptor, human transposase protein and meningioma-expressed antigen were identified. A potentially novel gene (C21orf24) with alternative mRNA transcripts, consensus splice donor and acceptor sites, but no coding potential nor murine orthologue, was identified and found to be expressed in a range of human cell lines. We have identified four novel splice variants that arise from a previously undescribed 5' exon of the human ERG gene. Comparison of the cDNA sequences enabled us to determine the complete exon-intron structure of the ERG gene. We have also identified the presence of noncoding RNAs in the first and second introns of the ETS2 gene. Our studies have important implications for Down syndrome as this region contains multiple mRNA transcripts, both coding and potentially noncoding, that may play as yet undescribed roles in the pathogenesis of this disorder.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing
  • Animals
  • CHO Cells
  • Cell Line
  • Cell Line, Tumor
  • Chromosome Mapping / methods*
  • Chromosomes, Human, Pair 21 / genetics*
  • Chromosomes, Mammalian / genetics*
  • Cricetinae
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • DNA-Binding Proteins*
  • Exons
  • Female
  • Genes / genetics
  • Humans
  • Hybrid Cells
  • Introns
  • Jurkat Cells
  • K562 Cells
  • Molecular Sequence Data
  • Oncogene Proteins / genetics*
  • Open Reading Frames / genetics
  • Pseudogenes / genetics
  • Retroviridae Proteins, Oncogenic / genetics*
  • Sequence Analysis, DNA
  • Synteny
  • Trans-Activators*
  • Transcription Factors / genetics*
  • Transcriptional Regulator ERG


  • DNA, Complementary
  • DNA-Binding Proteins
  • ERG protein, human
  • Oncogene Proteins
  • Retroviridae Proteins, Oncogenic
  • Trans-Activators
  • Transcription Factors
  • Transcriptional Regulator ERG
  • oncogene proteins v-ets

Associated data

  • GENBANK/AY204744
  • GENBANK/AY204745
  • GENBANK/AY204746
  • GENBANK/AY204747
  • GENBANK/AY204748
  • GENBANK/AY204749
  • GENBANK/AY204750