Overall this study confirmed the ecSOD allele-specific effects on the ecSOD phenotype and on the disease susceptibilities. In conclusion, the congenic mice offer an excellent model to examine the regulatory mechanisms of ecSOD expression and the role of ecSOD in various diseases involving oxidative...
Allele-specific expression (ASE) effects are pervasive and are detected in over 50% of assayed genes. Genes with strong ASE do not differ from those with no ASE with respect to their length or promoter complexity. However, they have a higher density of sequence variants, higher functional ...
Finally, repressor regulatory activity and allele-specific protein binding by transcription factors of the TCF/LEF family were observed for the risk-increasing allele of rs386772267, indicating that expression regulation at this risk locus may be influenced by the Wnt signaling pathway. In conclusion,...
To assess whether the aspartate mutation also has Nef-allele specific effects on biological activities of Nef that are not mediated by the C-terminal PAK2 interaction motif, we next analyzed the Nef mutants for their ability to downregulate receptors from the cell surface. Jurkat T cells were ...
11.allele specific oligonucleotide等位基因特异的寡核苷酸 12.Of, relating to, or being an allele that produces the same phenotypic effect whether inherited with a homozygous or heterozygous allele.显性的不管遗传组合等位基因还是异合等位基因都产生相同表现型结果的等位基因的 13.The Effects of Allelic Alter...
Each mammalian autosomal gene is represented by two alleles in diploid cells. To our knowledge, no insights have been made in regard to allele-specific regulatory mechanisms of autosomes. Here we use allele-specific single cell transcriptomic analysis to elucidate the establishment of monoallelic gene...
Allele-specific expression (ASE) analysis detects the relative abundance of alleles at heterozygous loci as a proxy for cis-regulatory variation, which affects the personal transcriptome and proteome. This study describes the development and application of an ASE analysis pipeline on a unique cohort of...
Allele-specific sequencing reads provide a powerful signal for identifying molecular quantitative trait loci (QTLs), however they are challenging to analyze and prone to technical artefacts. Here we describe WASP, a suite of tools for unbiased allele-specific read mapping and discovery of molecular QT...
To determine the allele-specific effects of Sp1 binding upon native promoter activity, two luciferase reporter gene constructs were generated by PCR, spanning −1691 to +10 of theMMP-2 promoter sequence, with either a T or C at the −1306 polymorphic site (Fig. 6 A) and used to transf...
quantification of allele specific expression (ASE), if the expressed sequences of the two alleles differ by at least one base, by directly counting the reads with each one of the alleles in heterozygous samples. Therefore, RNAseq allows the distinction of truecis-eQTLs fromlocaleffects acting ...