Skip to main content

Advertisement

Log in

Unstable transmission of the RS447 human megasatellite tandem repetitive sequence that contains the USP17 deubiquitinating enzyme gene

  • Original Investigation
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract.

The RS447 megasatellite DNA, which maps to human chromosome 4p16.1, is a highly polymorphic conserved tandem repetitive sequence containing a functional deubiquitinating enzyme gene, USP17. To characterize the hypervariability seen in RS447 fully, we have conducted a pedigree analysis of RS447 transmission by high-resolution pulsed-field gel electrophoresis. We have identified 44 distinct alleles in 74 unrelated chromosomes containing 20–103 copies of the 4.7-kb RS447 unit. Five of 60 parent-to-offspring transmissions clearly show changes in copy number, indicating a high frequency (~8.3%) of meiotic instability. Evidence for somatic mosaicism has also been observed. Searches of the database have revealed the presence of minor RS447 sequences mapping to chromosome 8p23, raising the possibility of a rearrangement or transposition of RS447 within the human genome. These results suggest that the unstable nature of RS447 megasatellite DNA gives rise to its hypervariability and may contribute to the structural dynamics of this repetitive DNA in the genome.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Author information

Authors and Affiliations

Authors

Additional information

Electronic Publication

Rights and permissions

Reprints and permissions

About this article

Cite this article

Okada, T., Gondo, Y., Goto, J. et al. Unstable transmission of the RS447 human megasatellite tandem repetitive sequence that contains the USP17 deubiquitinating enzyme gene. Hum Genet 110, 302–313 (2002). https://doi.org/10.1007/s00439-002-0698-2

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00439-002-0698-2

Keywords

Navigation