Defining factors causing genome imprint variability

导致基因组印记变异的定义因素

• 批准号: 6623052
• 负责人: CARMEN SAPIENZA
• 金额: $ 15.05万
• 依托单位: TEMPLE UNIV OF THE COMMONWEALTH
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-05-15 至 2005-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6623052
• 关键词: CpG islands; DNA methylation; alleles; clinical research; cytogenetics; developmental disease /disorder; family genetics; gel electrophoresis; gene environment interaction; gene expression; gene induction /repression; genetic polymorphism; genetic screening; genetic transcription; genomic imprinting; human genetic material tag; human population genetics; human tissue; insulinlike growth factor; linkage mapping; lymphocyte; phenotype; polymerase chain reaction; religious group; restriction fragment length polymorphism; statistics /biometry

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.

描述（由申请人提供）：烙印可以定义为父母 基因组的起源依赖性，表观遗传标记。在某个基因座，这些 烙印对基因表达有影响，因此等位基因 仅从一个父母继承而来。基因组的表观遗传性质 烙印增加了环境因素可以改变的可能性 这些等位基因特异性标记在躯体或 胚细胞。因为许多印刷基因编码涉及的产品 在胚胎发生或细胞增殖中，可能会破坏 基因组烙印的建立或维护可能会导致发展 异常或导致癌症。奇怪的是，大约八分之一 人口似乎改变了印迹基因表达 胰岛素样生长因子两个基因座。我们将确定这种干扰是否 印迹最有可能是由于遗传，环境或随机性引起的 因素，还确定基因组烙印是否在A上保持稳定 近二十年的时期。