[HTML][HTML] A missense mutation in Rev7 disrupts formation of Polζ, impairing mouse development and repair of genotoxic agent-induced DNA lesions
M Khalaj, A Abbasi, H Yamanishi, K Akiyama… - Journal of Biological …, 2014 - ASBMB
Repro22 is a mutant mouse produced via N-ethyl-N-nitrosourea-induced mutagenesis that
shows sterility with germ cell depletion caused by defective proliferation of primordial germ
cells, decreased body weight, and partial lethality during embryonic development. Using a
positional cloning strategy, we identified a missense mutation in Rev7/Mad2l2 (Rev7 C70R)
and confirmed that the mutation is the cause of the defects in repro22 mice through
transgenic rescue with normal Rev7. Rev7/Mad2l2 encodes a subunit of DNA polymerase ζ …
shows sterility with germ cell depletion caused by defective proliferation of primordial germ
cells, decreased body weight, and partial lethality during embryonic development. Using a
positional cloning strategy, we identified a missense mutation in Rev7/Mad2l2 (Rev7 C70R)
and confirmed that the mutation is the cause of the defects in repro22 mice through
transgenic rescue with normal Rev7. Rev7/Mad2l2 encodes a subunit of DNA polymerase ζ …