Assessing the impact of genetic variation on transcriptional regulation in vitro.
Assessing the impact of genetic variation on transcriptional regulation in vitro.
复制标题
评估遗传变异对体外转录调控的影响。
DOI：
10.1007/978-1-60327-367-1_11
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发表时间：
2010
期刊：
影响因子：
--
通讯作者：
Ali FR
中科院分区：
文献类型：
--
作者：
Ali FR
含有多态性顺式调节区的基因的两个等位基因可以对表达水平做出不同的贡献。这种顺式调控结构域的进化变化被认为参与了H. sapiensas和表型多样性。已有许多研究表明遗传变异与个体对行为和情感障碍的易感性有关。顺式作用调节多态性可以在许多水平上影响基因表达，如转录、mRNA加工效率、前mRNA剪接和mRNA稳定性。反式作用调节因子（如转录因子）也在决定特定等位基因的mRNA浓度中起主要作用。一些研究表明，不同基因内的VNTR可以支持基于拷贝数的差异基因表达，并且VNTR作为转录调节因子的功能可以部分地由转录因子调节。更好地理解由VNTR介导的表达调节途径将补充临床研究，证明了这些结构域如何可能在机制上参与疾病的进展，并可能为药物干预提供更明确的靶点。
Two alleles of a gene that contain polymorphiccis-regulatory regions can contribute differently to expression levels. Evolutionary changes in suchcis-regulatory domains are believed to have participated in the cognitive evolution ofH. sapiensas well as phenotypic diversity. There have been many studies that associate genetic variations to individual’s susceptibility to behavioural and affective disorders.Cis-acting regulatory polymorphisms can effect gene expression at many levels, such as transcription, mRNA processing efficiency, pre-mRNA splicing, and mRNA stability.Trans-acting modulators (such as transcription factors) also play a major role in determining mRNA concentration of a specific allele. Several studies have demonstrated that VNTRs within various genes can support differential gene expression based on copy number and that the function of the VNTR as a transcriptional regulator can be modulated, in part, by transcription factors.A better understanding of the pathways regulating expression mediated by the VNTRs would complement clinical studies, demonstrating how these domains may be mechanistically involved in the progression of the disorder and may supply more defined targets for pharmaceutical intervention.
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影响因子：
5.3
作者：
Klenova, E;Scott, AC;Quinn, JP
通讯作者：
Quinn, JP
候选基因的多态性：对帕金森病当前治疗的影响
影响因子：
3.2
作者：
L. Skipper;Jian;E. Tan
通讯作者：
E. Tan
影响因子：
2.5
作者：
Bellivier, F;Leroux, M;Leboyer, M
通讯作者：
Leboyer, M
影响因子：
0.9
作者：
Battersby, S;Ogilvie, AD;Harmar, AJ
通讯作者：
Harmar, AJ