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"Functional genomic studies were done with the four nonsynonymous coding single nucleotide polymorphisms that were present, two of which were novel. " After transient expression in COS-1 cells, the Cys264, Thr364, and double-variation of Arg39Cys264 allozymes showed significant reductions in activity and immunoreactive protein when compared to the wild-type enzyme. When compared to the WT enzyme, Met201 showed no significant decline in either activity or protein level, despite a slight decrease in protein content for the Arg39 allozyme. With androstenedione as substrate, there was also a 4-fold rise in apparent Km value for Thr364 as substrate. Only the double mutant of the aromatase inhibitors exemestane and letrozole demonstrated a significant change in the WT enzyme's inhibitor constant for the aromatase inhibitors exemestane and letrozole. These findings show that genetic variations in CYP19 may play a role in estrogen-dependent disease pathophysiology.
Source link: https://doi.org/10.1158/0008-5472.can-05-1218
"The chicken genome sequences, and this, along with microarray and other functional genomics techniques, makes post-genomic research in the chicken possible. " We'll specifically focus on the Gene Ontology, chicken GO annotations, and how this can be used to produce functional genomics in the chicken. Despite its critical role in analyzing microarray and other functional genomics data, only a handful of chicken gene products have any GO annotation. When these are available, the average quality of chicken gene products annotations is much lower than those of mouse. AgBase's GO tools pipeline derives functional and biological value from microarray and other functional genomics results. "Not only will improved genomic annotation and tools to use these annotations benefit the chicken research community, but they will also enable research in other avian species and comparative genomics. ".
Source link: https://doi.org/10.1159/000103189
"All living cells are coated with a diverse range of carbohydrate molecules known as glycans. " Glycans are key regulators of cell function and important therapeutic targets for human disease. Unlike proteins, glycans are not specifically shaped by discrete genes. We explain specifically how technologies such as ChIP-seq, RNA-seq, CRISPR genomic profiling, and scRNA-seq are being used to map the genetic basis for a variety of cell-surface glycosylation states in both normal and diseased cell types. We also provide a look at how emerging functional genomics technologies might enable even more opportunities for studying cellular glycobiology in the future.
Source link: https://doi.org/10.3389/fmolb.2022.934584
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