Advertisement

Human Genetics

, Volume 99, Issue 3, pp 357–363 | Cite as

Interethnic polymorphism of EWS intron 6: genome plasticity mediated by Alu retroposition and recombination

  • Jessica Zucman-Rossi
  • Mark A. Batzer
  • Mark Stoneking
  • Olivier Delattre
  • Gilles Thomas
Original investigation

Abstract

The EWS gene has been identified as being systematically translocated in Ewing’s sarcoma. In order to ascertain the basis of a marked interethnic difference in the incidence of Ewing’s sarcoma, intron 6 of EWS, which is located near the translocation breakpoint region (EWSR1), was characterized. Sequence analysis of the entire intron 6 region revealed a very high density of Alu elements. Most of these Alu sequences could be classified in previously described subfamilies, facilitating delineation of an evolutionary model that involves successive retroposition events. According to this model, the EWS intron 6 region progressively expanded until about 5 million years ago. More recently (105 years ago), in part of the human population, the size of this region decreased by over 50% as the result of a homeologous recombination between two Alu sequences, which removed 2480 bp. This rare allele has only been observed in individuals of African origin, a population that is characterized by the lowest incidence of Ewing’s sarcoma.

Keywords

Sequence Analysis Sarcoma Lower Incidence Evolutionary Model Human Population 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • Jessica Zucman-Rossi
    • 1
  • Mark A. Batzer
    • 2
  • Mark Stoneking
    • 3
  • Olivier Delattre
    • 1
  • Gilles Thomas
    • 1
  1. 1.INSERM U 434 Génétique des Tumeurs, Institut Curie, Section de Recherche, 26 rue d’Ulm, F-75231 Paris Cedex 05, France Tel.: +33-1-42-34-66-84; Fax: +33-1-42-34-66-30; e-mail: Jessica.Zucman-rossi@curie.frFR
  2. 2.Department of Pathology, Stanley S. Scott Cancer Center, Louisiana State University Medical Center. 1901 Perdido Street, New Orleans, LA 70112, USAUS
  3. 3.Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USAUS

Personalised recommendations