It is possible that cis -acting functional variants are rare and not well-represented by the common GWAS SNPs used for these analyses. Because previously implicated polymorphisms were not included in this analysis and linkage disequilibrium patterns between markers are population-specific, we are ...
Cis-acting expression quantitative trait loci in mice Genome Res., 15 (2005), pp. 681-691 Google Scholar [15] N. Hubner, C.A. Wallace, H. Zimdahl, E. Petretto, H. Schulz, F. Maciver, et al. Integrated transcriptional profiling and linkage analysis for identification of genes underlyin...
(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¢...
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...
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 ...
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 ...
Cis-acting variants lead to local coordination of transcription factor occupancies that decay with distance; distal coordination is also observed and may be modulated by long-range chromatin contacts. Our results reveal the regulatory mechanisms that interplay to drive transcription factor occupancy, ...
Effect of Cis Acting Potential Regulators in the β Globin Gene Cluster on the Production of HbF in Thalassemia Patients The clinical presentation of β-thalassemia intermedia phenotypes are influenced by many factors. The persistence of fetal hemoglobin and several polymorphisms located in the promoters...
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 ...
In order to assess whether gene expression variability could be influenced by the presence of more than onecis-acting SNP, we have conducted a systematic genome-wide search for haplotypicciseQTL effects in a sample of 758 individuals and replicated the findings in an independent sample of 1,374...