Identification of New Human Imprinted Genes: A Novel Approach

新人类印记基因的鉴定：一种新方法

• 批准号: 418734-2012
• 负责人: Weksberg, Rosanna
• 金额: $ 2.04万
• 依托单位: University of Toronto
• 依托单位国家: 加拿大
• 项目类别: Discovery Grants Program - Individual
• 财政年份: 2014
• 资助国家: 加拿大
• 起止时间: 2014-01-01 至 2015-12-31
• 项目状态: 已结题
• 来源: https://www.nserc-crsng.gc.ca/ase-oro/Details-Detailles_eng.asp?id=551572
• 关键词: Identification; New; Human; Imprinted; Genes

"Imprinted" genes are critical for normal human growth and development. Almost all of our genes occur in pairs, with one copy of each gene pair inherited from our mother (maternal) and the other from our father (paternal). For the vast majority of our gene pairs, the copy inherited from each parent is expressed equally. However, imprinted genes are expressed in a parent of origin-specific manner. That is, the genes are transcribed (read) from either the maternal or paternal copy, not both, and the expression of these genes may differ in specific tissues. The mechanism by which this special type of transcription is achieved is termed epigenetic. Epigenetic marks, such as DNA methylation, essentially silence the gene by making it inaccessible to the transcription machinery in the cell. Imprinted genes typically have opposite epigenetic marks on the two parental genes in the pair, one methylated (silenced) and the other not methylated (transcribed). This is called differential DNA methylation.

“印记”基因对于人类正常生长和发育至关重要。我们几乎所有的基因都是成对出现的，每个基因对的一个副本遗传自我们的母亲（母亲），另一个副本遗传自我们的父亲（父亲）。对于我们的绝大多数基因对来说，从父母双方继承的拷贝都是同等表达的。然而，印记基因以亲本起源特异性方式表达。也就是说，基因是从母本或父本拷贝转录（读取）的，而不是两者都转录，并且这些基因的表达在特定组织中可能不同。实现这种特殊类型转录的机制称为表观遗传。表观遗传标记，例如 DNA 甲基化，通过使其无法进入细胞中的转录机制，从本质上沉默基因。印记基因通常在一对亲本基因上具有相反的表观遗传标记，一个甲基化（沉默），另一个未甲基化（转录）。 这称为差异 DNA 甲基化。