Sakatani T, Wei M, Katoh M, Okita C, Wada D, Mitsuya K, Meguro M, Ikeguchi M, Ito H, Tycko B, Oshimura M
CREST Program of the Japan Science and Technology Corporation (JST), Tottori University, Yonago, Japan.
Biochem Biophys Res Commun. 2001 May 25;283(5):1124-30. doi: 10.1006/bbrc.2001.4916.
Genomic imprinting is the phenomenon by which the two alleles of certain genes are differentially expressed according to their parental origin. Extensive analysis of allelic expression at multiple imprinted loci in a normal population has not performed so far. In the present study, we examined the allelic expression pattern of three imprinted genes in a panel of 262 Japanese normal individuals. We observed differences in the extent of maintenance of allele-specific expression of the three genes. The allelic expression of small nuclear ribonucleoprotein N (SNRPN) was stringently regulated while that of multimembrane-spanning polyspecific transporter-like gene 1 (IMPT1) showed a large degree of variation. Significant biallelic expression of insulin-like growth factor II (IGF2) was observed in about 10% of normal individuals. Our findings add to the accumulating evidence for variable allelic expression at multiple loci in a normal human population. This epigenetic heterogeneity can be a stable trait and potentially influence individual phenotypes.
基因组印记是指某些基因的两个等位基因根据其亲本来源而差异表达的现象。迄今为止，尚未对正常人群中多个印记位点的等位基因表达进行广泛分析。在本研究中，我们检测了262名日本正常个体中三个印记基因的等位基因表达模式。我们观察到这三个基因在等位基因特异性表达维持程度上存在差异。小核核糖核蛋白N（SNRPN）的等位基因表达受到严格调控，而多跨膜多特异性转运体样基因1（IMPT1）的等位基因表达则表现出很大程度的变异。在约10%的正常个体中观察到胰岛素样生长因子II（IGF2）的显著双等位基因表达。我们的发现为正常人群中多个位点的可变等位基因表达积累了更多证据。这种表观遗传异质性可能是一种稳定的性状，并可能影响个体表型。
