Knockout mouse model and gametogenic failure

Molecular and Cellular Endocrinology

Volumn 145, Issue 1-2, 1998, Pages 161-166

  Grootegoed, J Anton ^a   Baarends, Willy M ^a,b   Roest, Henk P ^a   Hoeijmakers, Jan H J ^b  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Infertility; Knockout; Oogenesis; Ovary; Spermatogenesis; Testis; Ubiquitin

Indexed keywords

ANIMAL MODEL; CONFERENCE PAPER; GAMETOGENESIS; GENE EXPRESSION; INFERTILITY; KNOCKOUT MOUSE; MOUSE; NONHUMAN; OOCYTE DEVELOPMENT; PRIORITY JOURNAL; TESTIS DEVELOPMENT;

ANIMALS; FEMALE; GENE EXPRESSION; INFERTILITY, MALE; LIGASES; MALE; MICE; MICE, KNOCKOUT; OOGENESIS; PHENOTYPE; SPERMATOGENESIS; UBIQUITIN-CONJUGATING ENZYMES; UBIQUITINS;

EID: 0032566958     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0303-7207(98)00183-X     Document Type: Conference Paper

References (45)

1. Adham I.M., Nayernia K., Engel W. Spermatozoa lacking acrosin protein show delayed fertilization. Mol. Reprod. Dev. 46:1997;370-376.
2. Alfonso P.J., Kistler W.S. Immunohistochemical localization of spermatid nuclear transition protein 2 in the testes of rats and mice. Biol. Reprod. 48:1993;522-529.
3. Baarends, W.M., Roest, H.P., Hoogerbrugge, J.W., Hendriksen, P.J.M., Hoeijmakers, J.H.J., Grootegoed, J.A., 1998. Chromatin structure and gene expression during spermatogenesis. In: M. Stefanini, C. Boitani, M. Galdieri, R. Geremia, F. Palombi (Eds.), Testicular Function: From Gene Expression to Genetic Manipulation. Springer-Verlag, Berlin, (Suppl. 3) pp. 83-103.
4. Baba T., Azuma S., Kashiwabara S., Toyoda Y. Sperm from mice carrying a targeted mutation of the acrosin gene can penetrate the oocyte zona pellucida and effect fertilization. J. Biol. Chem. 269:1994;31845-31849.
5. Baker S.M., Bonner 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. Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell. 82:1995;309-319.
6. Blendy J.A., Kaestner K.H., Weinbauer G.F., Nieschlag E., Schütz G. Severe impairment of spermatogenesis in mice lacking the CREM gene. Nature. 380:1996;162-165.
7. Capecchi M.R. Altering the genome by homologous recombination. Science. 244:1989;1288-1292.
8. Chai N.N., Salido E.C., Yen P.H. Multiple functional copies of the RBM gene family, a spermatogenesis candidate on the human Y chromosome. Genomics. 45:1997;355-361.
9. Ciechanover A. Ubiquitin-mediated proteolysis and male sterility. Nat. Med. 2:1996;1188-1190.
10. Cooke H.J., Lee M., Kerr S., Ruggiu M. A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads. Hum. Mol. Genet. 5:1996;513-516.
11. Cooke H.J., Elliott D.J. RNA-binding proteins and human male infertility. Trends Genet. 13:1997;87-89.
12. Dix D.J., Allen J.W., Collins B.W., Mori C., Nakamura N., Poorman-Allen P., Goulding E.H., Eddy E.M. Targeted gene disruption of Hsp70-2 results in failed meiosis, germ cell apoptosis, and male infertility. Proc. Natl. Acad. Sci. USA. 93:1996;3264-3268.
13. Dix, D.J., Allen, J.W., Collins, B.W., Poorman-Allen, P., Mori, C., Blizard, D.R., Brown, P.R., Goulding E.H., Strong, B.D., Eddy, E.M., 1997. HSP70-2 is required for desynapsis of synaptonemal complexes during meiotic prophase in juvenile and adult mouse spermatocytes. Development 124, 4595-4603.
14. Edelmann W., Cohen P., Kane M. et al. Meiotic pachytene arrest in MLH1-deficient mice. Cell. 85:1996;1125-1134.
15. Haas A.L., Bright Reback P., Chau V. Ubiquitin conjugation by the yeast RAD6 and CDC34 gene products. J. Biol. Chem. 266:1991;5104-5112.
16. Hendriksen P.J.M., Hoogerbrugge J.W., Themmen A.P.N., Koken M.H.M., Hoeijmakers J.H.J., Oostra B.A., Van der Lende T., Grootegoed J.A. Postmeiotic transcription of X and Y chromosomal genes during spermatogenesis in the mouse. Dev. Biol. 170:1995;730-733.
17. Ikawa M., Wada I., Kominami K., Watanabe D., Toshimori K., Nishimune Y., Okabe M. The putative chaperone calmegin is required for sperm fertility. Nature. 387:1997;607-611.
18. Kistler W.S., Henriksen K., Mali P., Parvinen M. Sequential expression of nucleoproteins during rat spermiogenesis. Exp. Cell. Res. 225:1996;374-381.
19. Klemm U., Muller-Esterl W., Engel W. Acrosin, the peculiar sperm-specific serine protease. Hum. Genet. 87:1991;635-641.
20. Koken M.H., Reynolds P., Jaspers-Dekker L., Prakash L., Prakash S., Bootsma D., Hoeijmakers J.H.J. Structural and functional conservation of two human homologs of the yeast DNA repair gene RAD6. Proc. Natl. Acad. Sci. USA. 88:1991;8865-8869.
21. Koken M.H.M., Hoogerbrugge J.W., Jaspers-Dekker I., de Wit J., Willemsen R., Roest H.P., Grootegoed J.A., Hoeijmakers J.H.J. Expression of the ubiquitin-conjugating DNA repair enzymes HHR6A and B suggests a role in spermatogenesis and chromatin modification. Dev. Biol. 173:1996;119-132.
22. Lawrence C. The RAD6 repair pathway in Saccharomyces cerevisiae: what does it do, and how does it do it? BioAssays. 16:1994;253-258.
23. Liu C., Litscher E.S., Mortillo S., Sakai Y., Kinloch R.A., Stewart C.L., Wassarman P.M. Targeted disruption of the mZP3 gene results in production of eggs lacking a zona pellucida and infertility in female mice. Proc. Natl. Acad. Sci. USA. 93:1996;5431-5436.
24. Lyon M.F. X-chromosome inactivation and developmental patterns in mammals. Biol. Rev. Camb. Philos. Soc. 47:1972;1-35.
25. Monesi V. Differential rate of ribonucleic acid synthesis in the autosomes and sex chromosomes during male meiosis in the mouse. Chromosoma. 17:1965;11-21.
26. Nantel, F., Monaco, L., Foulkes, N.S., Masquillier, D., LeMeur, M., Henriksen, Dierich, A., Parvinen, M., Sassone-Corsi, P., 1996. Spermiogenesis deficiency and germ-cell apoptosis in CREM-mutant mice. Nature 380, 159-165.
27. Odorisio T., Mahadevaiah S.K., McCarrey J.R., Burgoyne P.S. Transcriptional analysis of the candidate spermatogenesis gene Ube1y and of the closely related Ube1x shows that they are coexpressed in spermatogonia and spermatids but are repressed in pachytene spermatocytes. Dev. Biol. 180:1996;336-343.
28. Porter A. Controlling your losses: conditional gene silencing in mammals. Trends Genet. 14:1998;73-79.
29. Rankin T., Familari M., Lee E., Ginsberg A., Dwyer N., Blanchette-Mackie J., Drago J., Westphal H., Dean J. Mice homozygous for an insertional mutation in the Zp3 gene lack a zona pellucida and are infertile. Development. 122:1996;2903-2910.
30. Reijo R., Lee T.Y., Salo P., Alagappan R., Brown L.G., Rosenberg M., Rozen S., Jaffe T., Straus D., Hovatta O. et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat. Genet. 10:1995;383-393.
31. Reijo R., Seligman J., Dinulos M.B., Jaffe T., Brown L.G., Disteche C.M., Page D.C. Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty. Genomics. 35:1996;346-352.
32. Rhim J.A., Connor W., Dixon G.H., Harendza C.J., Evenson D.P., Palmiter R.D., Brinster R.L. Expression of an avian protamine in transgenic mice disrupts chromatin structure in spermatozoa. Biol. Reprod. 52:1995;20-32.
33. Roest H.P., Klaveren van J., Wit de J., Gurp van C.G., Koken M.H.M., Vermey M., Roijen van J.H., Vreeburg J.T.M., Baarends W.M., Bootsma D., Grootegoed J.A., Hoeijmakers J.H.J. Inactivation of the HR6B ubiquitin-conjugating DNA repair enzyme in mice causes a defect in spermatogenesis associated with chromatin modification. Cell. 86:1996;799-810.
34. Ruggiu M., Speed R., Taggart M., McKay S.J., Kilanowski F., Saunders P., Dorin J., Cooke H.J. The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis. Nature. 389:1997;73-77.
35. Saxena R., Brown L.G., Hawkins T., Alagappan R.K., Skaletsky H., Reeve M.P., Reijo R., Rozen S., Dinulos M.B., Disteche C.M., Page D.C. The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nat. Genet. 14:1996;292-299.
36. Shan Z., Hirschmann P., Seebacher T., Edelmann A., Jauch A., Morell J., Urbitsch P., Vogt P.H. A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad. Hum. Mol. Genet. 5:1996;2005-2011.
37. Simon A.M., Goodenough D.A., Li E., Paul D.L. Female infertility in mice lacking connexin 37. Nature. 385:1997;525-528.
38. Unni E., Mayerhofer A., Zhang Y., Bhatnagar Y.M., Russell L.D., Meistrich M.K. Increased accessibility of the N-terminus of testis-specific histone TH2B to antibodies in elongating spermatids. Mol. Reprod. Dev. 42:1995;210-219.
39. Unni E., Zhang Y., Kangasniemi M., Saperstein W., Moss S.B., Meistrich M.L. Stage-specific distribution of the spermatid-specific histone 2B in the rat testis. Biol. Reprod. 53:1995;820-826.
40. Varshavsky A. The ubiquitin system. Trends Biochem. Sci. 22:1997;383-387.
41. Ward W.S., Coffey D.S. DNA packaging and organization in mammalian spermatozoa: comparison with somatic cells. Biol. Reprod. 44:1991;569-574.
42. Wassarman P.M., Qi H., Litscher E.S. Mutant female mice carrying a single mZP3 allele produce eggs with a thin zona pellucida, but reproduce normally. Proc. R. Soc. Lond. B. 264:1997;323-328.
43. Weinbauer G.F., Behr R., Bergmann M., Nieschlag E. Testicular cAMP responsive element modulator (CREM) protein is expressed in round spermatids but is absent or reduced in men with round spermatid maturation arrest. Mol. Hum. Reprod. 4:1998;9-15.
44. Yen P.H., Chai N.N., Salido E.C. The human autosomal gene DAZLA: testis specificity and a candidate for male infertility. Hum. Mol. Genet. 5:1996;2013-2017.
45. Zhu D., Dix D.J., Eddy E.M. HSP70-2 is required for CDC2 kinase activity in meiosis I of mouse spermatocytes. Development. 124:1997;3007-3014.