@article{a51705ba677a40058a20d0d31cadbef0,
title = "Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis",
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.",
author = "Baker, {Sean M.} and Bronner, {C. Eric} and Lin Zhang and Plug, {Annemieke W.} and Merrilee Robatzek and Gwynedd Warren and Elliott, {Eileen A.} and Jian Yu and Terry Ashley and Norman Arnheim and Flavell, {Richard A.} and Liskay, {R. Michael}",
note = "Funding Information: Correspondence should be addressed to R. M. L. The authors thank Drs. Grant McGregor and Bob Braun for advice on the testis analysis, Cindy Hughes and Debbie Butkus for blastocyst injections, Dr. Mario Capecchi for plasmids, Dr. Andy Wyrobek for sperm analysis protocols, Dr. Bryan Ogden for surgical assistance, Dr. Melissa Gordon for tumor evaluation, Allie Harris and Donna-Marie Christie for technical help, Dr. S. Stanley Gartler, Richard Kolodner, and Benjamin Taylor for unpublished information and discussions, and Dr. Matt Thayer for critical reading of the manuscript. This work was supported by National Institutes of Health grants GM45413-05 and GM32741-14 to R. M. L., GM49779 to T. A., and GM36745 to N. A.; R. A. F. is an Investigator and E. A. E. an Associate of the Howard Hughes Medical Institute; S. M. B. received a fellowship from the C. G. Swebilius Fund; and C. E. B. is the recipient of an American Cancer Society fellowship.",
year = "1995",
month = jul,
day = "28",
doi = "10.1016/0092-8674(95)90318-6",
language = "English (US)",
volume = "82",
pages = "309--319",
journal = "Cell",
issn = "0092-8674",
publisher = "Cell Press",
number = "2",
}