Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis
SM Baker, CE Bronner, L Zhang, AW Plug, M Robatzek… - Cell, 1995 - cell.com
Cell, 1995•cell.com
Using gene targeting in embryonic stem cells, we have derived mice with a null mutation in a
DNA mismatch repair gene homolog, PMS2. We observed microsatellite instability in the
male germline, in tail, and in tumor DNA of PMS2-deficient animals. We therefore conclude
that PMS2 is involved in DNA mismatch repair in a variety of tissues. PMS2-deficient animals
appear prone to sarcomas and lymphomas. PMS2-deficient males are infertile, producing
only abnormal spermatozoa. Analysis of axial element and synaptonemal complex formation …
DNA mismatch repair gene homolog, PMS2. We observed microsatellite instability in the
male germline, in tail, and in tumor DNA of PMS2-deficient animals. We therefore conclude
that PMS2 is involved in DNA mismatch repair in a variety of tissues. PMS2-deficient animals
appear prone to sarcomas and lymphomas. PMS2-deficient males are infertile, producing
only abnormal spermatozoa. Analysis of axial element and synaptonemal complex formation …
Summary
Using gene targeting in embryonic stem cells, we have derived mice with a null mutation in a DNA mismatch repair gene homolog, PMS2. We observed microsatellite instability in the male germline, in tail, and in tumor DNA of PMS2-deficient animals. We therefore conclude that PMS2 is involved in DNA mismatch repair in a variety of tissues. PMS2-deficient animals appear prone to sarcomas and lymphomas. PMS2-deficient males are infertile, producing only abnormal spermatozoa. Analysis of axial element and synaptonemal complex formation during prophase of meiosis I indicates abnormalities in chromosome synapsis. These observations suggest links among mismatch repair, genetic recombination, and chromosome synapsis in meiosis.
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