Chromosomal rearrangement interferes with meiotic X chromosome inactivation

Genome Research

Volumn 17, Issue 10, 2007, Pages 1431-1437

  Homolka, David ^a   Ivanek, Robert ^a   Capkova, Jana ^a   Jansa, Petr ^a   Forejt, Jiri ^a  

^a INSTITUTE OF MOLECULAR GENETICS   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; AUTOSOME; CHROMATIN; CHROMOSOME 17; CHROMOSOME REARRANGEMENT; CONTROLLED STUDY; DOWN REGULATION; GENE REPRESSION; GENE SILENCING; GENE TRANSLOCATION; MALE; MEIOSIS; MOUSE; NONHUMAN; PACHYTENE; PRIORITY JOURNAL; SPERMATOCYTE; TRANSCRIPTION REGULATION; X CHROMOSOME INACTIVATION;

ANIMALS; CHROMATIN; DOWN-REGULATION; GENE REARRANGEMENT; GENE SILENCING; HUMANS; INFERTILITY, MALE; MALE; MEIOSIS; MICE; MICE, CONGENIC; MICE, INBRED C57BL; SPERMATOCYTES; SPERMATOGENESIS; TRANSLOCATION, GENETIC; X CHROMOSOME; X CHROMOSOME INACTIVATION;

SYNAPSIS;

EID: 34948902038     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.6520107     Document Type: Article

References (46)

1. Ansari, H., Jung, H., Hediger, R., Fries, R., Konig, H., and Stranzinger, G. 1993. A balanced autosomal reciprocal translocation in an azoospermic bull. Cytogenet. Cell Genet. 62: 117-123.
2. Baarends, W.M., Wassenaar, E., van der Laan, R., Hoogerbrugge, J., Sleddens-Linkels, E., Hoeijmakers, J.H., de Boer, P., and Grootegoed, J.A. 2005. Silencing of unpaired chromatin and histone H2A ubiquitination in mammalian meiosis. Mol. Cell. Biol. 25: 1041-1053.
3. Bastos, H., Lassalle, B., Chicheportiche, A., Riou, L., Testart, J., Allemand, I., and Fouchet, P. 2005. Flow cytometric characterization of viable meiotic and postmeiotic cells by Hoechst 33342 in mouse spermatogenesis. Cytometry A 65: 40-49.
4. Bean, C.J., Schaner, C.E., and Kelly, W.G. 2004. Meiotic pairing and imprinted X chromatin assembly in Caenorhabditis elegans. Nat. Genet. 36: 100-105.
5. Benjamini, Y. and Hochberg, Y. 1995. Controlling the false discovery rate - A practical and powerful approach to multiple testing. J. Roy. Stat. Soc. B 57: 289-300.
6. Costa, Y., Speed, R.M., Gautier, P., Semple, C.A., Maratou, K., Turner, J.M., and Cooke, H.J. 2006. Mouse MAELSTROM: The link between meiotic silencing of unsynapsed chromatin and microRNA pathway? Hum. Mol. Genet. 15: 2324-2334.
7. Dai, M., Wang, P., Boyd, A.D., Kostov, G., Athey, B., Jones, E.G., Bunney, W.E., Myers, R.M., Speed, T.P., Akil, H., et al. 2005. Evolving gene/transcript definitions significantly alter the interpretation of GeneChip data. Nucleic Acids Res. 33: e175. doi: 10.1093/nar/gni179.
8. de Boer, P. and Branje, H. 1979. Association of the extra chromosome of tertiary trisomic male mice with the sex chromosomes during first meiotic prophase, and its significance for impairment of spermatogenesis. Chromosoma 73: 369-379.
9. de Boer, P. and Groen, A. 1974. Fertility and meiotic behavior of male T70H tertiary trisomics of the mouse (Mus musculus). A case of preferential telomeric meiotic pairing in a mammal. Cytogenet. Cell Genet. 13: 489-510.
10. de Boer, P., Giele, M., Lock, M.T., de Rooij, D.G., Giltay, J., Hochstenbach, R., and te Velde, E.R. 2004. Kinetics of meiosis in azoospermic males: A joint histological and cytological approach. Cytogenet. Genome Res. 105: 36-46.
11. de Rooij, D.G. and de Boer, P. 2003. Specific arrests of spermatogenesis in genetically modified and mutant mice. Cytogenet. Genome Res. 103: 267-276.
12. Forejt, J. 1974. Nonrandom association between a specific autosome and X-chromosome in meiosis of the male mouse: Possible consequence of the homogous centromeres separation. Cytogenet. Cell Genet. 13: 369-383.
13. Forejt, J. 1979. Meiotic studies of translocations causing male sterility in the mouse. II. Double heterozygotes for Robertsonian translocations. Cytogenet. Cell Genet. 23: 163-170.
14. Forejt, J. 1982. X-Y involvement in male sterility caused by autosome translocations - A hypothesis. In Genetic control of gamete production and function (eds. M. Fraccaro and B. Rubin), pp. 135-151. Academic Press, New York.
15. Forejt, J. 1984. X-inactivation and its role in male sterility. In Chromosomes today (eds. M. Bennett et al.), pp. 117-127. George Allen and Unwin, London.
16. Forejt, J. 1996. Hybrid sterility in the mouse. Trends Genet. 12: 412-417.
17. Forejt, J. and Gregorova, S. 1977. Meiotic studies of translocation causing male sterility in the mouse. I. Autosomal reciprocal translocations. Cytogenet. Cell Genet. 19: 159-179.
18. Forejt, J., Gregorova, S., and Goetz, P. 1981. XY pair associates with the synaptonemal complex of autosomal male-sterile translocations in pachytene spermatocytes of the mouse (Mus musculus). Chromosoma 82: 41-53.
19. Forejt, J., Gregorova, S., Landikova, S., Capkova, J., and Silver, L. 1995. Genetic variations in parental imprinting on mouse chromosome 17. In Genomic imprinting. Causes and consequences (eds. R. Ohlsson et al.), pp. 29-46. Cambridge University Press, Cambridge.
20. Gabriel-Robez, O. and Rumpler, Y. 1996. The meiotic pairing behaviour in human spermatocytes carrier of chromosome anomalies and their repercussions on reproductive fitness. II. Robertsonian and reciprocal translocations. A European collaborative study. Ann. Genet. 39: 17-25.
21. Ganesan, S., Silver, D.P., Greenberg, R.A., Avni, D., Drapkin, R., Miron, A., Mok, S.C., Randrianarison, V., Brodie, S., Salstrom, J., et al. 2002. BRCA1 supports XIST RNA concentration on the inactive X chromosome. Cell 111: 393-405.
22. Gentleman, R.C., Carey, V.J., Bates, D.M., Bolstad, B., Dettling, M., Dudoit, S., Ellis, B., Gautier, L., Ge, Y., Gentry, J., et al. 2004. Bioconductor: Open software development for computational biology and bioinformatics. Genome Biol. 5: R80. doi: 10.1186/gb-2004-5-10- r80.
23. Handel, M.A. 2004. The XY body: A specialized meiotic chromatin domain. Exp. Cell Res. 296: 57-63.
24. Hoyer-Fender, S. 2003. Molecular aspects of XY body formation. Cytogenet. Genome Res. 103: 245-255.
25. Hoyer-Fender, S., Costanzi, C., and Pehrson, J. 2000. Histone macroH2A1.2 is concentrated in the XY-body by the early pachytene stage of spermatogenesis. Exp. Cell Res. 258: 254-260.
26. Irizarry, R.A., Hobbs, B., Collin, F., Beazer-Barclay, Y.D., Antonellis, K.J., Scherf, U., and Speed, T.P. 2003. Exploration, normalization, and summaries of high density oligonucleotide array probe level data. Biostatistics 4: 249-264.
27. Jaafar, H., Bouvet, A., Gabriel-Robez, O., Bonneau, M., Boscher, J., Maetz, J.L., Popescu, C.P., and Rumpler, Y. 1992. Heterosynapsis in two fertile but hypoprolific boars carriers of reciprocal translocations. Ann. Genet. 35: 3-7.
28. Johannisson, R., Gropp, A., Winking, H., Coerdt, W., Rehder, H., and Schwinger, E. 1983. Down's syndrome in the male. Reproductive pathology and meiotic studies. Hum. Genet. 63: 132-138.
29. Khalil, A.M., Boyar, F.Z., and Driscoll, D.J. 2004. Dynamic histone modifications mark sex chromosome inactivation and reactivation during mammalian spermatogenesis. Proc. Natl. Acad. Sci. 101: 16583-16587.
30. Lammers, J.H., Offenberg, H.H., van Aalderen, M., Vink, A.C., Dietrich, A.J., and Heyting, C. 1994. The gene encoding a major component of the lateral elements of synaptonemal complexes of the rat is related to X-linked lymphocyte-regulated genes. Mol. Cell. Biol. 14: 1137-1146.
31. Nguyen, D.K. and Disteche, C.M. 2006. Dosage compensation of the active X chromosome in mammals. Nat. Genet. 38: 47-53.
32. Oliver-Bonet, M., Benet, J., Sun, F., Navarro, J., Abad, C., Liehr, T., Starke, H., Greene, C., Ko, E., and Martin, R.H. 2005. Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure. Hum. Reprod. 20: 683-688.
33. Perry, J., Palmer, S., Gabriel, A., and Ashworth, A. 2001. A short pseudoautosomal region in laboratory mice. Genome Res. 11: 1826-1832.
34. Power, M. 1991. The first description of a balanced reciprocal translocation [t(1q;3q)] and its clinical effects in a mare. Equine Vet. J. 23: 146-149.
35. Schimenti, J. 2005. Synapsis or silence. Nat. Genet. 37: 11-13.
36. Sciurano, R., Rahn, M., Rey-Valzacchi, G., and Solari, A.J. 2007. The asynaptic chromatin in spermatocytes of translocation carriers contains the histone variant γH2AX and associates with the XY body. Hum. Reprod. 22: 142-150.
37. Scully, R., Chen, J., Plug, A., Xiao, Y., Weaver, D., Feunteun, J., Ashley, T., and Livingston, D.M. 1997. Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell 88: 265-275.
38. Searle, A.G., Ford, C.E., Evans, E.P., Beechey, C.V., Burtenshaw, M.D., Clegg, H.M., and Papworth, D.G. 1974. The induction of translocations in mouse spermatozoa. I. Kinetics of dose response with acute X-irradiation. Mutat. Res. 22: 157-174.
39. Shiu, P.K., Raju, N.B., Zickler, D., and Metzenberg, R.L. 2001. Meiotic silencing by unpaired DNA. Cell 107: 905-916.
40. Smyth, G. 2005. Limma: Linear models for microarray data. In Bioinformatics and computational biology solutions using R and Bioconductor (eds. V.R. Gentleman et al.), pp. 397-420. Springer, New York.
41. Turner, J.M. 2007. Meiotic sex chromosome inactivation. Development 134: 1823-1831.
42. Turner, J.M., Aprelikova, O., Xu, X., Wang, R., Kim, S., Chandramouli, G.V., Barrett, J.C., Burgoyne, P.S., and Deng, C.X. 2004. BRCA1, histone H2AX phosphorylation, and male meiotic sex chromosome inactivation. Curr. Biol. 14: 2135-2142.
43. Turner, J.M., Mahadevaiah, S.K., Fernandez-Capetillo, O., Nussenzweig, A., Xu, X., Deng, C.X., and Burgoyne, P.S. 2005. Silencing of unsynapsed meiotic chromosomes in the mouse. Nat. Genet. 37: 41-47.
44. Vacik, T., Ort, M., Gregorova, S., Strnad, P., Blatny, R., Conte, N., Bradley, A., Bures, J., and Forejt, J. 2005. Segmental trisomy of chromosome 17: A mouse model of human aneuploidy syndromes. Proc. Natl. Acad. Sci. 102: 4500-4505.
45. van der Heijden, G.W., Derijck, A.A., Posfai, E., Giele, M., Pelczar, P., Ramos, L., Wansink, D.G., van der Vlag, J., Peters, A.H., and de Boer, P. 2007. Chromosome-wide nucleosome replacement and H3.3 incorporation during mammalian meiotic sex chromosome inactivation. Nat. Genet. 39: 251-258.
46. van der Laan, R., Uringa, E.J., Wassenaar, E., Hoogerbrugge, J.W., Sleddens, E., Odijk, H., Roest, H.P., de Boer, P., Hoeijmakers, J.H., Grootegoed, J.A., et al. 2004. Ubiquitin ligase Rad18Sc localizes to the XY body and to other chromosomal regions that are unpaired and transcriptionally silenced during male meiotic prophase. J. Cell Sci. 117: 5023-5033.