| The RecQ family is a group of DNA helicases that play an important role in global genomic stability. Mutations in three of the five known human RecQ proteins (BLM, WRN, and RECQL4) give rise to clinically distinct disorders that are characterized by features such as premature aging and predisposition to cancer. The clinical distinction of each disease associated with these mutations points to distinct roles that members of this helicase family play in DNA metabolism. The RecQL5 helicase has not yet been associated with any human disease, but RecQL5 -/- mice exhibit an increased incidence of cancer. It has recently been shown that RecQL5 protects genome stability through two parallel mechanims: helicase action and interaction with the initiation form of RNA Polymerase II. It has also been shown that RecQL5 -/- mouse embryonic stem cells display an elevated frequency of sister chromatic exchange (SCE), suggesting a role in suppression of homologous recombination and/or crossover events. |
