ABSTRACT: The population genetics and population dynamics model describes how a gene drive would increase in frequency through its molecular activities and then suppress a population
Project description:GO Annotation The Gene Ontology, or GO, is a major bioinformatics initiative to unify the representation of gene and gene product attributes across all species. More specifically, the project aims to: 1. Maintain and develop its controlled vocabulary of gene and gene product attributes; 2. Annotate genes and gene products, and assimilate and disseminate annotation data; 3. Provide tools for easy access to all aspects of the data provided by the project. The ontology covers three domains: 1. Cellular component: A cellular component is just that, a component of a cell, but with the proviso that it is part of some larger object; this may be an anatomical structure (e.g. rough endoplasmic reticulum or nucleus) or a gene product group (e.g. ribosome, proteasome or a protein dimer). 2. Molecular function: Molecular function describes activities, such as catalytic or binding activities, that occur at the molecular level. GO molecular function terms represent activities rather than the entities (molecules or complexe
Project description:PTEN is a tumor suppressor that is often inactivated in cancer and possesses both lipid and protein phosphatase activities. We report the metabolic regulator PDHK1 (pyruvate dehydrogenase kinase1) is a synthetic-essential gene in PTEN-deficient cancer and normal cells. The predominant mechanism of PDHK1 regulation and dependency is the PTEN protein phosphatase dephosphorylates NFkB activating protein (NKAP) and limits NFkB activation to suppress expression of PDHK1, a NFkB target gene. Loss of the PTEN protein phosphatase upregulates PDHK1 to drive aerobic glycolysis and induce PDHK1 cellular dependence. PTEN-deficient human tumors harbor increased PDHK1, which is a biomarker of decreased patient survival, establishing clinical relevance. This study uncovers a PTEN-regulated signaling pathway and reveals PDHK1 as a potential target in PTEN-deficient cancers.
Project description:To determine the error rate of mitochondrial transcription, we ananlyzed 33 and 37 million reads respectively for wild type (WT) and mutant (E423P) mitochondrial RNA polymerase (POLRMT) overexpression flies and found that the error frequency of mitochondrial transcripts were over 5 fold higher in E423P flies than that of WT. To gain more insight into the molecular mechanisms that drive the error rate of transcription by POLRMT, we examined its distribution of errors along the mitochondrial genome. We also evaluated mitochondrial RNA processing by quantifying the frequency of a single read spanning two adjacent genes. There was no significant increase of unprocessed RNAs in E423P than that of WT. These observations concluded that overexpression of E423P POLRMT in adult flies leads to a statistically significant increase of mitochondrial transcripts errors.
Project description:the principal research objective is to form a database of tissue samples from patients with colorectal (bowel) cancer. The tissue samples that will be used for this research will have already been taken for diagnostic or therapeutic reasons. We will also be asking for consent for a research blood sample. The database will be used to improve our understanding of the molecular genetics and gene expression patterns in colorectal cancer.
Project description:Epigenomics has identified methylated gene regions that are specific for colorectal cancer (CRC). Through Epigenomics’ marker discovery and validation process Septin 9 was identified as a particularly robust methylation marker for detection of CRC. Epigenomics is currently developing a blood based CRC screening test based on Septin 9 and is performing a large prospective clinical trial showing its clinical utility in a population at average risk for CRC. Parallel to this trial further activities are needed to evaluate, optimize, and develop pre-analytical and analytical workflows as well as molecular assays making possible the use of Septin 9 methylation in the clinical routine.