其中cis调控主要依赖顺式作用元件(cis-acting element)进行,顺式作用元件是指存在于基因旁侧序列中能影响基因表达的序列,包括启动子、增强子、调控序列和可诱导元件等,它们的作用是参与核内基因表达的调控,顺式作用元件通常转录为非编码RNA,如lncRNA。2014年4月研究人员Christopher K. Glass在Cell子刊Trends in Biochemi...
(eQTL) analyses, genes have been identified whose expression are regulated by SNP markers, which are either in close proximity to (cis-acting SNPs) or at greater distances from the gene locus (trans-acting SNPs).12 Although the nature of cis-regulation is influenced by factors such as 5¢...
Methods Using individuals from 85 extended families that contributed to the linkage and who were measured for 42 clinical and biologic MetS phenotypes, we tested QTL-based SNP associations, peripheral white blood cell (PWBC) gene expression, and the effects of cis-acting SNPs on gene expression ...
In order to determine the contribution ofcis-acting andtrans-acting regulatory pathways on gene expression divergence in the brain, we utilized the C57Bl and CAST/EiJ mice models, which exhibit a very high rate of single-nucleotide polymorphism (SNP) divergence between the species. We generated F...
Cisandtranseffects can be distinguished by the differences in binding affinities among F0 parents and their F1 offspring, ascis-acting variation must remain allele-specific28,29,32,33,35(Supplementary Figs.4a,5). TFBS that had informative SNVs for allelic resolution were classified into four regula...
cause NMD; however, in other samples, the cause is unknown. In these cases, the cause of ASE could potentially be revealed by future studies. For example, whole genome sequencing and analysis of non-coding mutations near NB-ASE genes could illuminate cis-acting regulatory mutations that cause ...
a positive and large ΔMOCCS2score indicates that a change from the reference to alternative allele potentially attenuates binding of a TF (Methods, Fig.5A). In this study, we calculated the ΔMOCCS2score for each position within a 6-mer when a SNP was introduced at each respective position...
acting49,60,61and the effects of trans-SNPs are usually too weak to be detected with a reasonably high power62. By treating the effects of cis-SNPsβas random, the cis-SNPs set association test is equivalent to examiningH0: λ = 0 in equation (1). However, it is a nonstandard ...
Emerging evidence suggests that dysregulation of oncogenic pathways requires precise tuning in order for cancer to develop. To test this, we examined the overlap between cis-acting elements of the hypoxia-inducible factor (HIF) pathway and cancer-suscept
Gene region. A linear stretch of genomic DNA which serves as a functional gene region comprising cis-acting regulatory regions, transcribed regions, and intervening sequences as well as 10 kilobase pairs of 5′ flanking sequence and 10 kilobase pairs of 3′ flanking sequence. ...