Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis

Sean M. Baker, C. Eric Bronner, Lin Zhang, Annemieke W. Plug, Merrilee Robatzek, Gwynedd Warren, Eileen A. Elliott, Jian Yu, Terry Ashley, Norman Arnheim, Richard A. Flavell, R. Michael Liskay

Research output: Contribution to journalArticle

455 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)309-319
Number of pages11
JournalCell
Volume82
Issue number2
DOIs
StatePublished - Jul 28 1995

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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    Baker, S. M., Bronner, C. E., Zhang, L., Plug, A. W., Robatzek, M., Warren, G., Elliott, E. A., Yu, J., Ashley, T., Arnheim, N., Flavell, R. A., & Liskay, R. M. (1995). Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell, 82(2), 309-319. https://doi.org/10.1016/0092-8674(95)90318-6