Olszewska Marta, Kurpisz Maciej
Instytut Genetyki Człowieka Polskiej Akademii Nauk, Zakład Biologii Rozrodu i Komórek Macierzystych, ul. Strzeszyńska 32, 60-479 Poznań.
Postepy Hig Med Dosw (Online). 2010 Dec 7;64:642-9.
Differences in epigenetic patterns in male and female organisms highlight the key role of epigenetic mechanisms in development, initiated in gametogenesis. A consequence of imprinting is the expression of only one allele--maternal or paternal. Disturbances in imprinting cause genetic disorders (e.g., Angelman syndrome, Prader-Willi syndrome, Beckwith-Wiedemann syndrome, Silver-Russell syndrome) or influence cancer development. Also immature gametes used in artificial reproductive technologies may increase the risk of genetic disorders in offspring. Imprinting is heritable and does not change during the lifetime of an organism.
雄性和雌性生物体中表观遗传模式的差异凸显了表观遗传机制在配子发生起始的发育过程中的关键作用。印记的一个结果是仅一个等位基因——母源或父源的等位基因得以表达。印记紊乱会导致遗传疾病(如天使综合征、普拉德-威利综合征、贝克威思-维德曼综合征、西尔弗-拉塞尔综合征)或影响癌症发展。此外,人工生殖技术中使用的未成熟配子可能会增加后代患遗传疾病的风险。印记是可遗传的,并且在生物体的一生中不会改变。