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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

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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

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