Meiotic arrest and aneuploidy in MLH3-deficient mice

Nature Genetics

Volumn 31, Issue 4, 2002, Pages 385-390

  Lipkin, Steven M ^a,b   Moens, Peter B ^c   Wang, Victoria ^b   Lenzi, Michelle ^d   Shanmugarajah, Dakshine ^b   Gilgeous, Abigail ^d   Thomas, James ^b   Cheng, Jun ^b   Touchman, Jeffrey W ^b   Green, Eric D ^b   Schwartzberg, Pam ^b   Collins, Francis S ^b   Cohen, Paula E ^d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c YORK UNIVERSITY   (Canada)

^d ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN MLH3; UNCLASSIFIED DRUG;

ANEUPLOIDY; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CHROMOSOME; CONTROLLED STUDY; EMBRYO; EVOLUTION; FEMALE; FERTILIZATION; FRAMESHIFT MUTATION; GENE REPLICATION; MALE; MAMMAL; MEIOSIS; MISMATCH REPAIR; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN FAMILY; SEQUENCE HOMOLOGY; SPERMATOCYTE; YEAST;

ADENOSINE TRIPHOSPHATASES; ANEUPLOIDY; ANIMALS; APOPTOSIS; CARRIER PROTEINS; CHROMOSOMES; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; EXONS; FEMALE; FERTILIZATION IN VITRO; INFERTILITY, FEMALE; MALE; MEIOSIS; MICE; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; NEOPLASM PROTEINS; NUCLEAR PROTEINS; OOCYTES; SEQUENCE ANALYSIS; SPERMATOCYTES; TESTIS;

ANIMALIA; BACTERIA (MICROORGANISMS); EUKARYOTA; MAMMALIA; PACHYNEMA;

EID: 0036699091     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng931     Document Type: Article

References (29)

1. Modrich, P. & Lahue, R. Mismatch repair in replication fidelity, genetic recombination, and cancer biology. Annu. Rev. Biochem. 65, 101-133 (1996).
2. Kolodner, R.D. & Marsischky, G.T. Eukaryotic DNA mismatch repair. Curr. Opin. Genet. Dev. 9, 89-96 (1999).
3. Wang, T.F., Kleckner, N. & Hunter, N. Functional specificity of MutL homologs in yeast: evidence for three Mlh1-based heterocomplexes with distinct roles during meiosis in recombination and mismatch correction. Proc. Natl Acad. Sci. USA 96, 13914-13919 (1999).
4. Hollingsworth, N.M., Ponte, L. & Halsey, C. MSH5, a novel MutS homolog, facilitates meiotic reciprocal recombination between homologs in Saccharomyces cerevisiae but not mismatch repair. Genes Dev. 9, 1728-1739 (1995).
5. Ross-Macdonald, P. & Roeder, G.S. Mutation of a meiosis-specific MutS homolog decreases crossing over but not mismatch correction. Cell 79, 1069-1080 (1994).
6. Her, C., Wu, X., Wan, W. & Doggett, N.A. Identification and characterization of the mouse MutS homolog 5: MshS. Mamm. Genome 10, 1054-1061 (1999).
7. de Vries, S.S. et al. Mouse MutS-like protein Msh5 is required for proper chromosome synapsis in male and female meiosis. Genes Dev. 13, 523-531 (1999).
8. Kneitz, B. et al. MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice. Genes Dev. 14, 1085-1097 (2000).
9. Paquis-Flucklinger, V. et al. Cloning and expression analysis of a meiosis-specific MutS homolog: The human MSH4 gene. Genomics 44, 188-194 (1997).
10. Edelmann, W. et al. Mammalian MutS homologue 5 is required for chromosome pairing in meiosis. Nature Genet. 21, 123-127 (1999).
11. Hunter, N. & Borts, R.H. Mlh1 is unique among mismatch repair proteins in its ability to promote crossing-over during meiosis. Genes Dev. 11, 1573-1582 (1997).
12. Baker, S.M. et al. Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over. Nature Genet. 13, 336-342 (1996).
13. Baker, S.M. et al. Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell 82, 309-319 (1995).
14. Edelmann, W. et al. Meiotic pachytene arrest in MLH-1 1-deficient mice. Cell 85, 1125-1134 (1996).
15. Lipkin, S.M. et al. MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. Nature Genet. 24, 27-35 (2000).
16. Moens, P.B. et al. The time course and localization of recombination-related proteins at meiosis in the mouse conform to models that can resolve the early DNA-DNA interactions without reciprocal recombination. J. Cell Sci. 115, 1611-1622 (2002).
17. Anderson, L.K., Reeves, A., Webb, L.M. & Ashley, T. Distribution of crossing over on mouse synaptonemal complexes using immunofluorescent localization of MLH1 protein. Genetics 151, 1569-1579 (1999).
18. Flores-Rozas, H. & Kolodner, R.D. The Saccharomyces cerevisiae MLH3 gene functions in MSH3-dependent suppression of frameshift mutations. Proc. Natl Acad. Sci. USA 95, 12404-12409 (1998).
19. Woods, L.M. et al. Chromosomal influence on meiotic spindle assembly: abnormal meiosis I in female Mlh1 mutant mice. J. Cell Biol. 145, 1395-1406 (1999).
20. Cohen, P.E. & Pollard, J.W. Regulation of meiotic recombination and prophase I progression in mammals. Bio Essays 23, 996-1009 (2001).
21. Guarne, A., Junop, M.S. & Yang, W. Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase. EMBO J. 20, 5521-5531 (2001).
22. Osoegawa, K. et al. Bacterial artificial chromosome libraries for mouse sequencing and functional analysis. Genome Res. 10, 116-128 (2000).
23. Marra, G. et al. Mismatch repair deficiency associated with overexpression of the MSH3 gene. Proc. Natl Acad. Sci. USA 95, 8568-8573 (1998).
24. Green, E.D. Strategies for the systematic sequencing of complex genomes. Nature Rev. Genet. 2, 573-583 (2001).
25. Ellsworth, R.E. et al. Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes. Proc. Natl Acad. Sci. USA 97, 1172-1177 (2000).
26. Touchman, J.W. et al. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Genome Res. 10, 165-173 (2000).
27. Ewing, B., Hillier, L., Wendl, M.C. & Green, P. Base-calling of automated sequencer traces using phred. I. Accuracy assessment. Genome Res. 8, 175-185 (1998).
28. Edelmann, W. et al. The DNA mismatch repair genes Msh3 and Msh6 cooperate in intestinal tumor suppression. Cancer Res. 60, 803-807 (2000).
29. Wang, D. & Enders, G.C. Expression of a specific mouse germ cell nuclear antigen (GCNA1) by early embryonic testicular teratoma cells in 129/Sv-Sl/+ mice. Cancer Lett. 100, 31-36 (1996).