基因组印记与癌症。
Genomic imprinting and cancer.
作者信息
Joyce J A, Schofield P N
机构信息
Department of Anatomy, University of Cambridge, UK.
出版信息
Mol Pathol. 1998 Aug;51(4):185-90. doi: 10.1136/mp.51.4.185.
Genomic imprinting is the phenomenon by which individual alleles of certain genes are expressed differentially according to their parent of origin. The alleles appear to be differentially marked during gametogenesis or during the early part of development. This mark is heritable but reversible from generation to generation, implying a stable epigenetic modification. Approximately 25 imprinted genes have been identified to date, and dysregulation of a number of these has been implicated in tumour development. The normal physiological role of many imprinted genes is in the control of cell proliferation and fetal growth, indicating potential mechanisms of action in tumour formation. Both dominant and recessive modes of action have been postulated for the role of imprinted genes in neoplasia, as a result of effective gene dosage alterations by epigenetic modification of the normal pattern of allele specific transcription. The aim of this review is to assess the importance of imprinted genes in generating tumours and to discuss the implications for novel mechanisms of transforming mutation.
基因组印记是一种现象，即某些基因的个别等位基因根据其亲本来源而差异表达。这些等位基因在配子发生过程或发育早期似乎被差异标记。这种标记是可遗传的，但代代可逆，这意味着一种稳定的表观遗传修饰。迄今为止，已鉴定出约25个印记基因，其中一些基因的失调与肿瘤发生有关。许多印记基因的正常生理作用是控制细胞增殖和胎儿生长，这表明了其在肿瘤形成中的潜在作用机制。由于通过等位基因特异性转录的正常模式的表观遗传修饰导致有效基因剂量改变，印记基因在肿瘤形成中的作用已被假定为主导和隐性作用模式。本综述的目的是评估印记基因在肿瘤发生中的重要性，并讨论其对转化突变新机制的影响。
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