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Etablissement de l’empreinte parentale dans la lignée germinale. Conséquences pour la prise en charge en AMP

Imprinting in the germ line. Consequences for assisted reproduction

Résumé

L’empreinte parentale est un marquage épigénétique des allèles parentaux et se manifeste par une expression monoallélique de certains gènes dits gènes soumis à empreinte. Le marquage épigénétique des allèles d’un gène soumis à l’empreinte diffère en fonction de l’origine parentale de l’allèle. Ces modifications épigénétiques parents-spécifiques sont nécessaires au développement normal de l’embryon. Elles surviennent dans la lignée germinale et sont transmises par les gamètes. Pour que l’empreinte soit établie selon le sexe de l’individu, le marquage gamétique-spécifique (épigénotype gamétique) doit être réversible et effaçable. L’effacement des modifications épigénétiques survient dans les cellules germinales primordiales (PGCs). Après cette étape d’effacement, une nouvelle empreinte parentale sexe-spécifique est établie dans les lignées germinales mâles et femmelles.

Aussi, parmi les nombreuses questions posées par l’utilisation de gamètes immatures lors de tentatives d’assistance médicale à la procréation (AMP), la question de l’utilisation de gamètes “épigénétiquement immatures” est primordiale. En particulier, les conséquences épigénétiques à long terme pour le fœtus de l’utilisation de gamètes épigénétiquement immatures ne sont pas connues.

Abstract

Genomic imprinting is an epigenetic phenomenon in eutherian mammals that results in the differential expression of the paternally and maternally inherited alleles of a gene. Imprinted genes are necessary for normal mammalian development. Parental specific epigenetic modifications are imprinted on a subset of genes in the mammalian genome during germ cell maturation. Imprinting involves both cytosine methylation within CpG islands and changes in chromatin structure. All such epigenetic modifications are potentially reversible and can be erased. After the erasure step, new parental imprints are initiated, resulting in reintroduction of sex-specific imprints in the male and female germ line.

Although the function of genomic imprinting is not clear, it has been proposed that it evolved in mammals to regulate intrauterine growth and mammalian development. If the epigenotype of individual gametes is directly correlated with their later developmental capacities, genomic imprinting would have important practical implications in reproductive medicine for the use of embryos derived from assisted reproduction.

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Communication au XVIIIo Congrès de la Société d’Andrologie de Langue Française, Montpellier, 13–15 décembre 2001. Les termes marqués par un *sont expliqués dans le Glossaire en fin d’article.

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Kerjean, A., Jeanpierre, M., Jouannet, P. et al. Etablissement de l’empreinte parentale dans la lignée germinale. Conséquences pour la prise en charge en AMP. Androl. 11, 209–220 (2001). https://doi.org/10.1007/BF03034633

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