Ohlsson R, Nyström A, Pfeifer-Ohlsson S, Töhönen V, Hedborg F, Schofield P, Flam F, Ekström T J
Department of Experimental Drug Research, Karolinska Hospital, Stockholm, Sweden.
Nat Genet. 1993 May;4(1):94-7. doi: 10.1038/ng0593-94.
The phenomenon of parental imprinting involves the preferential expression of one parental allele of a subset of chromosomal genes and has so far only been documented in the mouse. We show here, by exploiting sequence polymorphisms in exon nine of the human insulin-like growth factor 2 (IGF2) gene, that only the paternally-inherited allele is active in embryonic and extra-embryonic cells from first trimester pregnancies. In addition, only the paternal allele is expressed in tissues from a patient who suffered from Beckwith-Wiedemann syndrome. Thus the parental imprinting of IGF2 appears to be evolutionarily conserved from mouse to man and has implications for the generation of the Beckwith-Wiedemann syndrome.
亲本印记现象涉及染色体基因子集中一个亲本等位基因的优先表达，迄今为止仅在小鼠中得到证实。我们在此通过利用人类胰岛素样生长因子2（IGF2）基因第九外显子中的序列多态性表明，在孕早期妊娠的胚胎和胚外细胞中，只有父本遗传的等位基因是活跃的。此外，在一名患有贝克威思-维德曼综合征患者的组织中，只有父本等位基因表达。因此，IGF2的亲本印记似乎在从小鼠到人类的进化过程中是保守的，并且对贝克威思-维德曼综合征的发生有影响。
