Article
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
Molecular cell - 1 Dec 2001
O'Driscoll M, Cerosaletti K M, Girard P M, Dai Y, Stumm M, Kysela B, Hirsch B, Gennery A, Palmer S E, Seidel J, Gatti R A, Varon R, Oettinger M A, Neitzel H, Jeggo P A, Concannon P
Abstract excerpt
DNA ligase IV functions in DNA nonhomologous end-joining and V(D)J recombination. Four patients with features including immunodeficiency and developmental and growth delay were found to have mutations in the gene encoding DNA ligase IV (LIG4). Their clinical phenotype closely resembles the DNA damage response disorder, Nijmegen breakage syndrome (NBS). Some of the mutations identified in the patients directly...
Topics
- Cell Cycle
- Cell Cycle Proteins
- Cells, Cultured
- Child
- Chromosome Breakage
- DNA Damage
- DNA Ligase ATP
- DNA Ligases
- DNA Mutational Analysis
- DNA Repair