Hostname: page-component-cd9895bd7-p9bg8 Total loading time: 0 Render date: 2024-12-23T17:53:23.171Z Has data issue: false hasContentIssue false
  • English
  • Français

The Mouse Xist Gene: a Model for Studying the Gametic Imprinting Phenomenon

Published online by Cambridge University Press:  01 August 2014

M. Zuccotti  and
M. Monk
M. Zuccotti*
Affiliation:
Molecular Embriology Unit, Institute of Child Health, London, United Kingdom Dipartimento Biologia Animale e Centro Studi per l'Istochimica del CNR, Pavia, Italia
M. Monk
Affiliation:
Molecular Embriology Unit, Institute of Child Health, London, United Kingdom
*
Molecular Embriology Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom

Extract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

In mammals, normal embryonic development requires differential genomic imprinting of male and female gametes [1, 2]. Many investigations have been directed towards the understanding of the molecular mechanisms of imprinting and the timing of establishment of the imprint during gametogenesis and its erasure during development.

Methylation is the focus of many of these studies as it has been known for some time that this epigenetic modification of the DNA correlates with the status of gene activity. So far, five imprinted genes, expressed from only one of the parental alleles, have been found to be differentially methylated in somatic tissue: mouse Igf2 [3] and Xist [4] and human SNRPN [5, 6] expressed from the paternal allele; mouse Igf2r [7] and H19 [8, 9] expressed from the maternal allele. However, so far, a gametic methylation imprint has been detected for only two of these genes: in an intron region of mouse Igf2r [7], and in the promoter region [10] and the first exon [11] of the Xist (X-inactivation-specific transcript [12, 13] gene.

The data accumulated for the Xist gene, during different phases of gametogenesis and development, provides the most comprehensive story about the role of methylation as a primary gametic imprint, and on the timing of its establishment during gametogenesis and erasure during development. Methylation studies have now been performed during oogenesis and spermatogenesis [Norris et al., 1994; 11] and in mature gametes and during early stages of development [10, 11]. In addition, expression of the gene has been described during gametogenesis [14-16] and throughout early development [4-17].

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 45 , Issue 1-2 , April 1996 , pp. 199 - 204
Copyright
Copyright © The International Society for Twin Studies 1996

References

REFERENCES

1. Surani, MAH et al.: Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis. Nature 1984; 308: 548–550.CrossRefGoogle Scholar
2. McGrath, J, Solter, D: Completion of mouse embryogenesis requires both maternal and paternal genomes. Cell 1984; 37: 179–183.CrossRefGoogle ScholarPubMed
3. Brandeis, M, et al.: The ontogeny of allele-specific methylation associated with imprinted genes in the mouse. EMBO J 1993; 12: 3669–3677.CrossRefGoogle ScholarPubMed
4. Kay, GF. et al.: Imprinting and X chromosome counting mechanisms determine Xist expression in early mouse development. Cell 1994; 77: 639–650.CrossRefGoogle Scholar
5. Glenn, CC et al.: Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet 1993; 2: 2001–2005.CrossRefGoogle ScholarPubMed
6. Sutcliffe, JS et al.: Deletions of differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 1994; 8: 52–58.CrossRefGoogle ScholarPubMed
7. Stoger, R et al.: Maternal specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinted signal. Cell 1993; 73: 61–71.CrossRefGoogle ScholarPubMed
8. Bartolomei, MS et al.: Epigenetic mechanisms underlying the imprinting of the mouse H19 gene. Genes Dev 1993; 7: 1663–1673.CrossRefGoogle ScholarPubMed
9. Ferguson-Smith, AC et al.: Parental-origin specific epigenetic modification of the mouse H 19 gene. Nature 1993; 362: 751–755.CrossRefGoogle Scholar
10. Zuccotti, M, Monk, M: Methylation of the mouse Xist gene in sperm and eggs correlates with imprinted Xist expression and paternal X inactivation. Nat Genet 1995; 9: 316–320.CrossRefGoogle ScholarPubMed
11. Ariel, M et al.: Gamete specific methylation correlates with imprinting of the murine Xist gene. Nat Genet 1995; à: 312–315.3.Google Scholar
12. Borsani, G et al.: Characterisation of a murine gene expressed from the inactive X chromosome. Nature 1991; 351: 325–329.CrossRefGoogle ScholarPubMed
13. Brockdorff N. et al.: Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome. Nature 1991; 351: 329–331.CrossRefGoogle Scholar
14. Salido, EC et al.: Expression of the X inactivation-associated gene Xist during spermatogenesis. Nat Genet 1992; 2: 196–199.CrossRefGoogle ScholarPubMed
15. McCarrey, JR, Dilworth, DD: Expression of Xist in mouse germ cells correlates with X-chromo-some inactivation. Nat Genet 1992; 2: 200–203.CrossRefGoogle ScholarPubMed
16. Richler, C et al.: X inactivation in mammalian testis is correlated with inactive X-specific transcription. Nat Genet 1992; 2: 192–195.CrossRefGoogle ScholarPubMed
17. Kay, GF et al.: Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation. Cell 1993; 72: 171–182.CrossRefGoogle ScholarPubMed
18. Brown, DM: Xist and the mapping of the X chromosome inactivation centre. Bio essays 1991; 13: 607–612.Google ScholarPubMed
19. Heard, E, Avner, P: Role play in X inactivation. Hum Mol Genet 1994; 3: 1481–1485.CrossRefGoogle ScholarPubMed
20. Monk, M, Harper, M: Sequential X chromosome inactivation coupled with cellular differentiation in early mouse embryos. Nature 1979; 281: 311–313.CrossRefGoogle ScholarPubMed
21. Takagi, N, Sasaki, M: Preferential expression of the paternally derived X chromosome in the extraeembryonic membranes of the mouse. Nature 1975; 256: 640–642.CrossRefGoogle Scholar
22. West, JD et al.: Preferential expression of the maternally derived X chromosome in the mouse yolk sac. Cell 1977; 12: 873–882.CrossRefGoogle ScholarPubMed
23. Harper, MI et al.: Preferential paternal X-inactivation in extraembryonic tissues of early mouse embryos. J Embryol Exp Morphol 1982; 67: 127–135.Google ScholarPubMed