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大脑中的印记基因表达。

Imprinted gene expression in the brain.

作者信息

Davies William, Isles Anthony R, Wilkinson Lawrence S

机构信息

Neurobiology and Developmental Genetics Programmes, The Babraham Institute, Babraham, Cambridge CB2 4AT, UK.

出版信息

Neurosci Biobehav Rev. 2005 May;29(3):421-30. doi: 10.1016/j.neubiorev.2004.11.007. Epub 2005 Jan 18.

Abstract

In normal mammals, autosomal genes are present in duplicate (i.e. two alleles), one inherited from the father, and one from the mother. For the majority of genes both alleles are transcribed (or expressed) equally. However, for a small subset of genes, known as imprinted genes, only one allele is expressed in a parent-of-origin dependent manner (note that the 'imprint' here refers to the epigenetic mechanism through which one allele is silenced, and is completely unrelated to classical 'filial imprinting' manifest at the behavioural level). Thus, for some imprinted genes expression is only (or predominantly) seen from the paternally inherited allele, whilst for the remainder, expression is only observed from the maternally inherited allele. Early work on this class of genes highlighted their importance in gross developmental and growth phenotypes. Recent studies in mouse models and humans have emphasised their contribution to brain function and behaviour. In this article, we review the literature concerning the expression of imprinted genes in the brain. In particular, we attempt to define emerging organisation themes, especially in terms of the direction of imprinting (i.e. maternal or paternal expression). We also emphasise the likely role of imprinted genes in neurodevelopment. We end by pointing out that, so far as discerning the precise functions of imprinted genes in the brain is concerned, there are currently more questions than answers; ranging from the extent to which imprinted genes might contribute to common mental disorders, to wider issues related to how easily the new data on brain may be accommodated within the dominant theory regarding the origins and maintenance of imprinting, which pits the maternal and paternal genomes against each other in an evolutionary battle of the sexes.

摘要

在正常哺乳动物中,常染色体基因以双倍体形式存在(即两个等位基因),一个来自父亲,一个来自母亲。对于大多数基因而言,两个等位基因的转录(或表达)是相等的。然而,对于一小部分被称为印记基因的基因,只有一个等位基因以亲本来源依赖的方式表达(请注意,这里的“印记”指的是一个等位基因被沉默的表观遗传机制,与行为层面表现出的经典“亲子印记”完全无关)。因此,对于某些印记基因,只有(或主要)从父系遗传的等位基因中观察到表达,而对于其余基因,只有从母系遗传的等位基因中观察到表达。关于这类基因的早期研究突出了它们在总体发育和生长表型中的重要性。最近在小鼠模型和人类中的研究强调了它们对脑功能和行为的贡献。在本文中,我们综述了有关印记基因在大脑中表达的文献。特别是,我们试图定义新出现的组织主题,尤其是在印记方向(即母系或父系表达)方面。我们还强调了印记基因在神经发育中的可能作用。最后,我们指出,就辨别印记基因在大脑中的精确功能而言,目前问题多于答案;从印记基因可能对常见精神障碍的贡献程度,到与新的大脑数据在关于印记起源和维持的主流理论(该理论在性别进化斗争中将母系和父系基因组对立起来)中能多容易地得到容纳相关的更广泛问题。

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