Defining factors causing genome imprint variability

描述(由申请人提供)：印记可定义为父母 基因组的起源相关的表观遗传学标记。在某些地点，这些 印记已经证明了对基因表达的影响，比如等位基因 从父母中只有一个人遗传的基因被转录。基因组的表观遗传学性质 印记增加了环境因素改变 这些等位基因特异性标记在体细胞遗传中的建立和稳定性 生殖细胞。因为许多印迹基因编码的产物涉及到 在胚胎发生或细胞增殖中，有可能对 建立或维护基因组印记可能会导致发育 异常或导致癌症。奇怪的是，大约八分之一的人 人类群体似乎改变了印记基因的表达 胰岛素样生长因子2位点。我们将确定这一干扰是否 很可能是由于遗传、环境或随机因素造成的 因素，也决定了基因组印迹是否在 近二十年的时间。

DESCRIPTION (provided by applicant): Imprinting may be defined as parental origin-dependent, epigenetic marking of the genome. At some loci, these imprints have demonstrated effects on gene expression, such that the allele inherited from only one parent is transcribed. The epigenetic nature of genome imprints raises the possibility that environmental factors can alter the establishment or stability of these allele-specific marks in somatic or germilne cells. Because many imprinted genes encode products that are involved in embryogenesis or cell proliferation, it is possible that disruptions to the establishment or maintenance of genome imprints may result in developmental abnormalities or lead to cancer. Curiously, approximately one-eighth of the human population appears to have altered imprinted gene expression at the insulin-like growth factor two locus. We will determine whether this disruption of imprinting is most likely to be due to genetic, environmental or stochastic factors and also determine whether genome imprints have remained stable over a period of nearly two decades.