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cc by (c) Monk, Dave Nicholas et al., 2019
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/171595

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

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Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset of genes, is required for normal development, and its disruption leads to human disease. Imprinting defects can involve isolated or multilocus epigenetic changes that may have no evident genetic cause, or imprinting disruption can be traced back to alterations of cis-acting elements or trans-acting factors that control the establishment, maintenance and erasure of germline epigenetic imprints. Recent insights into the dynamics of the epigenome, including the effect of environmental factors, suggest that the developmental outcomes and heritability of imprinting disorders are influenced by interactions between the genome, the epigenome and the environment in germ cells and early embryos.

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MONK, Dave nicholas, MACKAY, Deborah j. g., EGGERMANN, Thomas, MAHER, Eamonn r., RICCIO, Andrea. Genomic imprinting disorders: lessons on how genome, epigenome and environment interact. _Nature Reviews Genetics_. 2019-04-01. Vol. 20, núm. 4, pàgs. 235-248. [consulta: 25 de febrer de 2026]. [Disponible a: https://hdl.handle.net/2445/171595]

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