Developing T lymphocytes are uniquely sensitive to a lack of topoisomerase III alpha

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Maren Mönnich
  • Isabell Hess
  • Waltraud Wiest
  • Csanad Bachrati
  • Hickson, Ian David
  • Michael Schorpp
  • Thomas Boehm
All organisms possess at least one type IA DNA topoisomerase. These topoisomerases function as part of a DNA structure-specific "dissolvasome," also known as the RTR complex, which has critical functions in faithful DNA replication, recombination, and chromosome segregation. In humans, the heteromeric RTR complex consists of RMI1, RMI2, the Bloom's syndrome gene product (BLM), and topoisomerase 3A (TOP3A) proteins. Here, we describe the identification and characterization of two deleterious mutations in the zebrafish top3a gene that reveal an unexpected tissue-specific requirement of top3a function in developing thymocytes. Deficiency in top3a activates a p53-dependent check-point but does not affect VDJ recombination. Our results suggest that TOP3A could be a candidate gene involved in human primary immunodeficiency syndromes.
OriginalsprogEngelsk
TidsskriftEuropean Journal of Immunology
Vol/bind40
Udgave nummer9
Sider (fra-til)2379-84
Antal sider6
ISSN0014-2980
DOI
StatusUdgivet - sep. 2010

ID: 32318803