Sm. Baker et al., MALE-MICE DEFECTIVE IN THE DNA MISMATCH REPAIR GENE PMS2 EXHIBIT ABNORMAL CHROMOSOME SYNAPSIS IN MEIOSIS, Cell, 82(2), 1995, pp. 309-319
Using gene targeting in embryonic stem cells, we have derived mice wit
h a null mutation in a DNA mismatch repair gene homolog, PMS2. We obse
rved microsatellite instability in the male germline, in tail, and in
tumor DNA of PMS2-deficient animals. We therefore conclude that PMS2 i
s involved in DNA mismatch repair in a variety of tissues. PMS2-defici
ent animals appear prone to sarcomas and lymphomas, PMS2-deficient mal
es are infertile, producing only abnormal spermatozoa. Analysis of axi
al element and synaptonemal complex formation during prophase of meios
is I indicates abnormalities in chromosome synapsis. These observation
s suggest links among mismatch repair, genetic recombination, and chro
mosome synapsis in meiosis.