• Register
X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

X

Leaving Community

Are you sure you want to leave this community? Leaving the community will revoke any permissions you have been granted in this community.

No
Yes

RECQL, a member of the RecQ family of DNA helicases, suppresses chromosomal instability.

The mouse gene Recql is a member of the RecQ subfamily of DEx-H-containing DNA helicases. Five members of this family have been identified in both humans and mice, and mutations in three of these, BLM, WRN, and RECQL4, are associated with human diseases and a cellular phenotype that includes genomic instability. To date, no human disease has been associated with mutations in RECQL and no cellular phenotype has been associated with its deficiency. To gain insight into the physiological function of RECQL, we disrupted Recql in mice. RECQL-deficient mice did not exhibit any apparent phenotypic differences compared to wild-type mice. Cytogenetic analyses of embryonic fibroblasts from the RECQL-deficient mice revealed aneuploidy, spontaneous chromosomal breakage, and frequent translocation events. In addition, the RECQL-deficient cells were hypersensitive to ionizing radiation, exhibited an increased load of DNA damage, and displayed elevated spontaneous sister chromatid exchanges. These results provide evidence that RECQL has a unique cellular role in the DNA repair processes required for genomic integrity. Genetic background, functional redundancy, and perhaps other factors may protect the unstressed mouse from the types of abnormalities that might be expected from the severe chromosomal aberrations detected at the cellular level.

Pubmed ID: 17158923

Authors

  • Sharma S
  • Stumpo DJ
  • Balajee AS
  • Bock CB
  • Lansdorp PM
  • Brosh RM
  • Blackshear PJ

Journal

Molecular and cellular biology

Publication Data

March 14, 2007

Associated Grants

  • Agency: Intramural NIH HHS, Id:

Mesh Terms

  • Alleles
  • Animals
  • Cells, Cultured
  • Chromosomal Instability
  • DNA Damage
  • Demecolcine
  • Electroporation
  • Embryonic Stem Cells
  • Fibroblasts
  • Fluorescent Dyes
  • In Situ Hybridization, Fluorescence
  • Indoles
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred Strains
  • Mice, Knockout
  • RNA, Messenger
  • Radiation, Ionizing
  • RecQ Helicases
  • Sister Chromatid Exchange
  • Tissue Distribution