The phenomenon of genomic imprinting was discovered 40 years ago

Ferguson-Smith, Anne C.; Bartolomei, Marisa S.

doi:10.1038/d41586-024-01338-4

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14 May 2024

The phenomenon of genomic imprinting was discovered 40 years ago

Some genes carry an ‘imprint’ on either the maternal or the paternal copy, which determines whether or not that copy is expressed. This 1984 discovery changed how scientists think about gene regulation and inheritance.

Anne C. Ferguson-Smith⁰ &
Marisa S. Bartolomei¹

Anne C. Ferguson-Smith
1. Anne C. Ferguson-Smith is in the Department of Genetics, University of Cambridge, Cambridge CB2 3EH, UK.
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Marisa S. Bartolomei
1. Marisa S. Bartolomei is in the Department of Cell & Developmental Biology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
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In mammals, the expression of certain genes depends on which parent they were inherited from. For most genes in a cell, both copies are turned either on or off. But for a small subset of genes in mammals, one copy is on and the other off. For some of these genes, it is the maternal copy that is on; for others, it is the paternally inherited copy. This remarkable phenomenon, known as genomic imprinting, was discovered 40 years ago in landmark embryo-manipulation experiments¹^–³ reported by Surani, Barton and Norris in Nature¹^,³ and by McGrath and Solter in Cell².

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Nature 629, 763-765 (2024)

doi: https://doi.org/10.1038/d41586-024-01338-4

References

Surani, M. A. H., Barton, S. C. & Norris, M. L. Nature 308, 548–550 (1984).
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McGrath, J. & Solter, D. Cell 37, 179–183 (1984).
Article PubMed Google Scholar
Barton, S. C., Surani, M. A. H. & Norris, M. L. Nature 311, 374–376 (1984).
Article PubMed Google Scholar
Modliński, J. A. J. Embryol. Exp. Morphol. 60, 153–161 (1980).
PubMed Google Scholar
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Cattanach, B. M. & Kirk, M. Nature 315, 496–498 (1985).
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DeChiara, T. M., Robertson, E. J. & Efstratiadis, A. Cell 64, 849–859 (1991).
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Ferguson-Smith, A. C., Cattanach, B. M., Barton, S. C., Beechey, C. V. & Surani, M. A. Nature 351, 667–670 (1991).
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Bartolomei, M. S., Zemel, S. & Tilghman, S. M. Nature 351, 153–155 (1991).
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The authors declare no competing interests.

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[1] Surani, M. A. H., Barton, S. C. & Norris, M. L. Nature 308, 548–550 (1984).
Article PubMed Google Scholar

[2] McGrath, J. & Solter, D. Cell 37, 179–183 (1984).
Article PubMed Google Scholar

[3] Barton, S. C., Surani, M. A. H. & Norris, M. L. Nature 311, 374–376 (1984).
Article PubMed Google Scholar

[4] Modliński, J. A. J. Embryol. Exp. Morphol. 60, 153–161 (1980).
PubMed Google Scholar

[5] Hoppe, P. C. & Illmensee, K. Proc. Natl Acad. Sci. USA 79, 1912–1916 (1982).
Article PubMed Google Scholar

[6] Mann, J. R. & Lovell-Badge, R. H. Nature 310, 66–67 (1984).
Article PubMed Google Scholar

[7] Cattanach, B. M. & Kirk, M. Nature 315, 496–498 (1985).
Article PubMed Google Scholar

[8] Oakey, R. J. & Beechey, C. V. Trends Genet. 18, 359–366 (2002).
Article PubMed Google Scholar

[9] Barlow, D. P., Stöger, R., Herrmann, B. G., Saito, K. & Schweifer, N. Nature 349, 84–87 (1991).
Article PubMed Google Scholar

[10] DeChiara, T. M., Robertson, E. J. & Efstratiadis, A. Cell 64, 849–859 (1991).
Article PubMed Google Scholar

[11] Ferguson-Smith, A. C., Cattanach, B. M., Barton, S. C., Beechey, C. V. & Surani, M. A. Nature 351, 667–670 (1991).
Article PubMed Google Scholar

[12] Brunkow, M. E. & Tilghman, S. M. Genes Dev. 5, 1092–1101 (1991).
Article PubMed Google Scholar

[13] Bartolomei, M. S., Zemel, S. & Tilghman, S. M. Nature 351, 153–155 (1991).
Article PubMed Google Scholar

[14] Barlow, D. P. & Bartolomei, M. S. Cold Spring Harb. Perspect. Biol. 6, a018382 (2014).
Article PubMed Google Scholar

[15] Eggermann, T. et al. Nature Rev. Dis. Primers 9, 33 (2023).
Article PubMed Google Scholar

[16] Dindot, S. V. et al. Sci. Transl. Med. 15, eabf4077 (2023).
Article PubMed Google Scholar

[17] Li, X. et al. Dev. Cell 15, 547–557 (2008).
Article PubMed Google Scholar

[18] Ferguson-Smith, A. C. Nature Rev. Genet. 12, 565–575 (2011).
Article PubMed Google Scholar

[19] Monteagudo-Sánchez, A., Noordermeer, D. & Greenberg, M. V. C. Nature Struct. Mol. Biol. 31, 404–412 (2024).
Article PubMed Google Scholar

The phenomenon of genomic imprinting was discovered 40 years ago

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