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

C. M. Owczarek, K. J. Portbury, M. P. Hardy, D. A. O'Leary, Jun Kudo, Kazunori Shibuya, N. Shimizu, I. Kola, P. J. Hertzog

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)65-77
Number of pages13
JournalGene
Volume324
Issue number1-2
DOIs
Publication statusPublished - 2004 Jan 7

Fingerprint

Synteny
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 21
Human Chromosomes
Genes
RNA Splice Sites
Introns
Exons
Laminin Receptors
Transposases
Untranslated RNA
Messenger RNA
Pseudogenes
Monomeric GTP-Binding Proteins
Conserved Sequence
Meningioma
Down Syndrome
Complementary DNA
Antigens
Cell Line

Keywords

  • Alternative transcript
  • Down syndrome
  • Genomic structure
  • Noncoding RNA
  • Pseudogene

ASJC Scopus subject areas

  • Genetics

Cite this

Detailed mapping of the ERG-ETS2 interval of human chromosome 21 and comparison with the region of conserved synteny on mouse chromosome 16. / Owczarek, C. M.; Portbury, K. J.; Hardy, M. P.; O'Leary, D. A.; Kudo, Jun; Shibuya, Kazunori; Shimizu, N.; Kola, I.; Hertzog, P. J.

In: Gene, Vol. 324, No. 1-2, 07.01.2004, p. 65-77.

Research output: Contribution to journalArticle

Owczarek, CM, Portbury, KJ, Hardy, MP, O'Leary, DA, Kudo, J, Shibuya, K, Shimizu, N, Kola, I & Hertzog, PJ 2004, 'Detailed mapping of the ERG-ETS2 interval of human chromosome 21 and comparison with the region of conserved synteny on mouse chromosome 16', Gene, vol. 324, no. 1-2, pp. 65-77. https://doi.org/10.1016/j.gene.2003.09.047
Owczarek, C. M. ; Portbury, K. J. ; Hardy, M. P. ; O'Leary, D. A. ; Kudo, Jun ; Shibuya, Kazunori ; Shimizu, N. ; Kola, I. ; Hertzog, P. J. / Detailed mapping of the ERG-ETS2 interval of human chromosome 21 and comparison with the region of conserved synteny on mouse chromosome 16. In: Gene. 2004 ; Vol. 324, No. 1-2. pp. 65-77.
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