Position effect in human genetic disease
Position effect in human genetic disease
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DOI：
10.1093/hmg/7.10.1611
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发表时间：
1998-01-01
影响因子：
3.5
通讯作者：
van Heyningen, V
中科院分区：
文献类型：
--
作者：
Kleinjan, DJ;van Heyningen, V
基因在空间、时间和数量上的正确表达不仅需要存在完整的编码序列，没有不利的核苷酸变化，而且还需要正确发挥调控作用。随着越来越多的疾病相关基因的发现，许多情况下的分子缺陷已经被确定。越来越清楚的是，并不总是转录单位有缺陷：有许多情况下，基因表达的调控已经受到损害。与转录和启动子区域以外的染色体重排相关的病例被归类为位置效应。许多不同的机制可以解释其病因。在这里，我们研究的人类疾病，这种位置的影响是牵连。对这些情况的进一步研究可能会导致对基因调控和转录控制机制的重要见解。
The spatially, temporally and quantitatively correct expression of a gene requires the presence not only of intact coding sequence, free of adverse nucleotide changes, but also correctly functioning regulatory control. With the identification of an increasing number of disease-related genes, the molecular defect in many cases has been defined. It is becoming clear that it is not always the transcription unit that bears the defect: there are a number of cases where the regulation of gene expression has been compromised. Cases associated with chromosomal rearrangement outside the transcription and promoter regions are categorized as position effects. A number of different mechanisms may explain their aetiology. Here, we examine the human disorders where such position effects are implicated. Further study of such cases may lead to important insights into mechanisms of gene regulation and transcriptional control.