Xist-deficient mice are defective in dosage compensation but not spermatogenesis

Genes and Development

Volumn 11, Issue 2, 1997, Pages 156-166

  Marahrens, York ^a   Panning, Barbara ^a   Dausman, Jessica ^a   Strauss, William ^b   Jaenisch, Rudolf ^a,c  

^a WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

^b BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^c MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

Author keywords

dosage compensation; mice; spermatogenesis; X inactivation; Xist gene

Indexed keywords

ANIMAL MODEL; ARTICLE; EMBRYO; FEMALE; GENE DELETION; GENE EXPRESSION REGULATION; GENE MUTATION; LETHAL MUTANT; MALE; MALE FERTILITY; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; SPERMATOGENESIS; X CHROMOSOME INACTIVATION;

ANIMALIA; MAMMALIA;

EID: 0031044166     PISSN: 08909369     EISSN: None     Source Type: Journal    
DOI: 10.1101/gad.11.2.156     Document Type: Article

References (70)

1. Barr, M.L. 1959. Sex chromatin and phenotype in man. Science 130: 679-685.
2. Beard, C., E. Li, and R. Jaenisch. 1995. Loss of methylation activates Xist in somatic but not in embryonic cells. Genes & Dev. 9: 2325-2334.
3. Beutler, E., M. Yeh, and V.F. Fairbanks. 1962. The normal human female as a mosaic of X-chromosome activity: Studies using the gene for G-6-PD-deficiency as a marker. Prof. Natl. Acad. Sci. 48: 9-16.
4. Borsani, G., R. Tonlorenzi, M.C. Simmler, L. Dandolo, D. Arnaud, V. Capra, M. Grompe, A. Pizzuti, D. Muzny, et al. 1991. Characterization of a murine gene expressed from the inactive X chromosome. Nature 351: 325-328.
5. Brockdorff, N., A. Ashworth, G.F. Kay, P. Cooper, S. Smith, V.M. McCabe, D.P. Norris, G.D. Penny, D. Patel, et al. 1991. Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome. Nature 351: 329-331.
6. Brockdorff, N., A. Ashworth, G.F. Kay, V.M. McCabe, D.P. Norris, P.J. Cooper, S. Swift, and S. Rastan. 1992. The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus. Cell 71: 515-526.
7. Brown, C.J., A. Ballabio, J.L. Rupert, R.G. Lafreniere, M. Grompe, R. Tonlorenzi, and H.F. Willard. 1991. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 349: 38-44.
8. Brown, C.J., B.D. Hendrich, J.L. Rupert, R.G. Lafreniere, Y. Xing, J. Lawrence, and H.F. Willard. 1992. The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell 71: 527-542.
9. Clemson, C.M., J.A. McNeil, H.F. Willard, and J.B. Lawrence. 1996. XIST RNA paints the inactive X chromosome at interphase: Evidence for a novel RNA involved in nuclear/chromosome structure. J. Cell Biol. 132: 259-275.
10. Disteche, C.M., E.M. Eicher, and S.A. Latt. 1981. Late replication patterns in adult and embryonic mice carrying Searle's X-autosome translocation. Exp. Cell Res. 133: 357-362.
11. Eicher, E.M. 1970. X-autosome translocations in the mouse: Total inactivation versus partial inactivation of the X chromosome. Adv. Genet. 15: 175-259.
12. Endo, S. and N. Takagi. 1981. A prelininary cytogenetic study of X chromosome inactivation in diploid parthenogenetic embryos from LT/Sv mice. Jpn. J. Genet. 56: 349-356.
13. Epstein, C.J., S. Smith, B. Travis, and G. Tucker. 1978. Both X chromosomes function before visible X chromosome activation in female mouse embryos. Nature 274: 500-502.
14. Gardner, H., J. Kreidberg, V. Koteliansky, and R. Jaenisch. 1996. Deletion of integrin α1 by homologous recombination permits normal murine development but gives rise to a specific defect in cell adhesion. Dev. Biol. 175: 301-313.
15. Hagemeijer, J., E.M. Hoovers, E. Smit, and D. Bootsma. 1977. Replication pattern of the X-chromosome in three X-autosomal translocations. Cytogenet. Cell. Genet. 18: 333-348.
16. Handel, M.A. and P.A. Hunt. 1992. Sex-chromosome pairing and activity during mammalian meiosis. BioEssays 14: 817-822.
17. Henderson, S.A. 1965. RNA synthesis during male meiosis and spermatogenesis. Chromosoma 15: 345-366.
18. Hogan, B., R. Beddington, F. Costantini, and E. Lacy. 1994. Manipulating the mouse embryo: A laboratory manual Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
19. Hooper, M.L., K. Hardy, A. Handyside, S. Hunter, and M. Monk. 1987. HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells. Nature 326: 292-295.
20. Jeppesen, P. and B.M. Turner. 1993. The inactive X chromosome in female mammals is distinguished by a lack of histone H4 acetylation, a cytogenetic marker for gene expression. Cell 74: 281-289.
21. Kay, G.F., G.D. Penny, D. Patel, A. Ashworth, N. Brockdorff, and S. Rastan. 1993. Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation. Cell 72: 171-182.
22. Kofman-Alfaro, S. and A.C. Chandley. 1970. Meiosis in the male mouse. An autoradiographic investigation. Chromosoma 31: 404-420.
23. Kratzer, P.G. and S.M. Gartler. 1978. HGPRT activity changes in pre-implantation mouse embryos. Nature 274: 503-504.
24. Latham, K.E. 1996. X chromosome imprinting and inactivation in the early mammalian embryo. Trends Genet. 12: 134-138.
25. Laurent, C., M.-C. Biemont and B. Dutrillaux. 1975. Sur quatre noveaux cas de translocation du chromosome X chez 1′homme. Humangenetik 26: 35-46.
26. Lee, J.T., W.M. Strauss, J.A. Dausman, and R. Jaenisch. 1996. A 450 kb transgene displays properties of the mammalian X inactivation center. Cell 86: 83-94.
27. Leighton, P.A., R.S. Ingram, J. Eggenschwiler, A. Efstratiadis, and S.M. Tilghman. 1995. Disruption of imprinting caused by deletion of the H19 gene region in mice. Nature 375: 34-39.
28. Leisti, J.T., M.M. Kaback, and D.L. Rimoin. 1975. Human X-autosome translocations: Differential inactivation of the X-chromosome in a kindred with an X-9 translocation. Am. J. Hum. Genet. 27: 441-453.
29. Li, E., T.H. Bestor, and R. Jaenisch. 1992. Targeted mutation of the DNA methyltransferase gene results in embryonic lethality. Cell 69: 915-926.
30. Li, E., C. Beard, and R. Jaenisch. 1993. Role for DNA methyl-ation in genomic imprinting. Nature 366: 362-365.
31. Lifschytz, E. and D.L. Lindsley. 1972. The role of X-chromosome inactivation during spermatogenesis. Proc. Nat. Acad. Sci. 69: 182-186.
32. Lin, T.-P., P.A. Labosky, L.B. Grabel, C.A. Kozak, J.L. Pitman, J. Kleeman, and C.L. MacLeod. 1994. The Pem homeobox gene is X-linked and exclusively expressed in extraembryonic tissues during early murine development. Dev. Biol. 166: 170-179.
33. Lyon, M.F. 1961. Gene action in the X-chromosome of the mouse (Mus musculus L). Nature 190: 372-373.
34. _. 1972. X-chromosome inactivation and development patterns in mammals. Biol. Rev. 47: 1-35.
35. Lyon, M.F., A.G. Searle, C.E. Ford, and S. Ohno. 1964. A mouse translocation suppressing sex-linked variegation. Cytogenetics 3: 306-323.
36. Mann, J.R. and R.H. Lovell-Badge. 1987. The development of XO gynogenetic mouse embryos. Development 99: 411-416.
37. _. 1988. Two maternally derived X chromosomes contribute to parthenogenetic inviability. Development 104: 129-136.
38. McCarrey, J.R. and D.D. Dilworth. 1992. Expression of Xist in mouse germ cells correlates with X-chromosome inactivation. Nature Genet. 2: 200-203.
39. McMahon, A. and M. Monk. 1983. X-chromosome activity in female mouse embryos heterozygous for Pgk-1 and Searle's translocation, T(X;16) 16H. Genet. Res. Camb. 41: 69-83.
40. Monesi, V. 1965. Differential rate of ribonucleic acid synthesis in the autosomes and sex chromosomes during male meiosis in the mouse. Chromosoma 17: 11-21.
41. Monk, M. 1987. Biochemical microassays for X-chromosome-linked enzymes HPRT and PGK. In Mammalian development: A practical approach (ed. M. Monk), pp. 139-161. IRL Press, Oxford, UK.
42. Monk, M. and M.I. Harper. 1978. X chromosome activity in pre-implantation embryos from XX and XO mothers. J. Embryol. Exp. Morphol. 46: 53-64.
43. Monk, M. and H. Kathuria. 1977. Dosage compensation for an X-linked gene in pre-implantation mouse embryos. Nature 270: 599-601.
44. Moore, T.F. and D.G. Whittingham. 1992. Imprinting of phosphoribosyltransferases during preimplantation development of the mouse mutant, Hprtb-m3. Development 115: 1011-1016.
45. Odartchenko, N. and M. Pavillard. 1970. Late DNA replication in male mouse meiotic chromosomes. Science 167: 1133-1134.
46. Ohno, S. and T.S. Hauschka. 1960. Allocycly of the X-chromo-some in tumors and normal tissues. Cancer Res. 20: 541-545.
47. Ohno, S. and M.F. Lyon. 1965. Cytological study of Searle's X-autosome translocation in Mus musculus. Chromosoma 16: 90-100.
48. Padmore, R., L. Cao, and N. Kleckner. 1991. Temporal comparison of recombination and synaptonemal complex formation during meiosis in S. cerevisiae. Cell 66: 1239-1256.
49. Panning, B. and R. Jaenisch. 1996. DNA hypomethylation can activate Xist expression and silence X-linked genes. Genes & Dev. 10: 1991-2002.
50. Penny, G.D., G.F. Kay, S.A. Sheardown, S. Rastan, and N. Brockdorff. 1996. Requirement for Xist in X chromosome inactivation. Nature 379: 131-137.
51. Pfeifer, K. and S.M. Tilghman. 1994. Allele-specific gene expression in mammals: The curious case of the imprinted RNAs. Genes & Dev. 8: 1867-1874.
52. Rastan, S. 1983. Non-random X-chromosome inactivation in mouse X-autosome translocation embryos - location of the inactivation centre. J. Embryol. Exp. Morphol. 78: 1-22.
53. Rastan, S. and S.D.M. Brown. 1990. The search for the mouse X-chromosome inactivation centre. Genet. Res. Camb. 56: 99-106.
54. Rastan, S., M.H. Kaufman, A.H. Handyside, and M.F. Lyon. 1980. X-chromosome inactivation in extraembryonic membranes of diploid parthenogenetic mouse embryos demonstrated by differential staining. Nature 288: 172-173.
55. Richler, C., H. Soreq, and J. Wahrman. 1992. X inactivation in mammalian testis is correlated with inactive X-specific transcription. Nature Genet. 2: 192-195.
56. Russell, L.B. 1961. Genetics of mammalian sex chromosomes. Science 133: 1795-1803.
57. _. 1963. Mammalian X-chromosome action: Inaction limited in spread and in region of origin. Science 140: 976-978.
58. Salido, E.C., P.H. Yen, T.K. Mohandas, and L.J. Shapiro. 1992. Expression of the X inactivation-associated gene XIST during spermatogenesis. Nature Genet. 2: 196-199.
59. Shao, C. and N. Takagi. 1990. An extra maternally derived X chromosome is deleterious to early mouse development. Development 110: 969-975.
60. Solari, A.J. 1974. The behavior of the XY pair in mammals. Int. Rev. Cytol. 38: 273-317.
61. Spindle, A., K.S. Sturm, M. Flannery, J.J. Meneses, K. Wu, and R.A. Pedersen. 1996. Defective chorioallantoic fusion in mid-gestation lethality of parthenogenone-tetraploid chimeras. Dev. Biol. 173: 447-458.
62. Sugawara, O., N. Takagi, and M. Susaki. 1985. Correlation between X chromosome inactivation and cell differentiation in female pre-implantation mouse embryos. Cytogenet. Cell. Genet. 39: 210-219.
63. Tada, T. and N. Takagi. 1992. Early development and X-chromosome inactivation in mouse parthenogenetic embryos. Mol Reprod. Dev. 31: 20-27.
64. Tada, T., N. Tagaki, and I.-D. Adler. 1993. Parental imprinting on the mouse X chromosome: Effects on the early development of XO, XXY, and XXX embryos. Genet. Res. Camb. 62: 139-148.
65. Takagi, N. 1974. Differentiation of the X chromosomes in early female mouse embryos. Exp. Cell Res. 86: 127-135.
66. Takagi, N. and M. Sasaki. 1975. Preferential inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse. Nature 256: 640-642.
67. Takagi, N., N. Wake, and M. Sasaki. 1978. Cytologic evidence for preferential inactivation of the paternally derived X chromosome in XX mouse blastocysts. Cytogenet. Cell Genet. 20: 240-248.
68. Therman, E. and K. Pätau. 1974. Abnormal X-chromosomes in man: Origin, behaviour and effects. Humangenetik 25: 1-16.
69. Willison, K.W. and A. Ashworth. 1987. Spermatogenic gene expression. Trends Genet. 3: 351-355.
70. Zemel, S., M.S. Bartolomei, and S.M. Tilghman. 1992. Physical linkage of two mammalian imprinted genes. Nature Genet 2: 61-65.