SNV Of Top3β From Autism With C676r Mutation?

The small ribosomal subunit, amongst other things, is initiates the engagement of the mRNA and is responsible decoding the genetic information during translation [4].

Genes expression is what encodes many proteins to give function to a cell. It involves many steps that mostly include transcription and translation. Transcription alone does not play a role in gene expression (Erster Lect. 24). There are many post-transcriptional regulatory mechanisms that have been found to be involved. These mechanisms are a part of RNA processing. One of this can occur through alternative splicing. This is when exons of the same gene are spliced together to produce different mRNA molecules (Reece, et al. 372). Regulating gene expression also occurs during translation. mRNA lifespan within the cytoplasm is significant when it comes to determining the arrangement of protein synthesis. These mRNA molecules tend to be degraded by enzymes moments

The company ‘Invivogen’ made a transfectable and simple-to-use plasmid, called psiRNA™, that allows the production of siRNAs within the cells. To transfect means to introduce foreign material into eukaryotic cells. psiRNA is an RNA polymerase III-based plasmid that produces ‘short hairpin’ RNAs (shRNAs). shRNAs are more stable than synthetic siRNAs and since they are continuously expressed within the cells rather than having to be injected into the cytoplasm, this method permits long-lasting silencing of the BLG gene.

DNA topoisomerases are involved in many biological process, such as replication, transcription, recombination, and remodeling of chromatin (Champoux, 2001). The topoisomerase I is a monomeric protein (Fig. 1) that removes the negative superhelicity in DNA by changing the linking number of DNA in steps of 1, a reaction that does not need ATP (Burton and Kaguni, 1997). Topoisomerase I is composed by four domains

FXR proteins are a family of proteins that are related in structure (likely originating from a common ancestor gene) to FMRP. As a result, they are able to form homotypic and heterotypic interactions with FMRP. (Willemsen, R., et al. 2004)

In the second paper, “Novel RNA Modifications in the Nervous System: Form and Function,” Lee discusses the role of several novel RNA modification in the physiological setting of the nervous system. RNA editing plays a major role in many pathologies; for example, loss of normal function in an m6a demethylase, FTO, has been connected with cancer, ADHD, and Alzheimer’s. Other RNA modifications are necessary for proper development of the central nervous system. NSUN2 is an m5C RNA modification heavily implicated in embryogenesis, especially in the brain. Mutation of the NSUN2 gene is correlated with intellectual disability, developmental delay, and facial dysmorphism. The aforementioned A-to-I RNA edit is also enriched in the brain, and is necessary for the proper function of genes such as GluA2, which without modification leads to postnatal death. GluA2 is also implicated in glutamate reception by neurons, and consequently in the mechanisms of addiction. Furthermore, A-to-I RNA editing failure been linked with several chronic diseases, including

There are three types of RNA: mRNA, tRNA, and rRNA. Messenger RNA (mRNA) is synthesized from a gene segment of DNA which ultimately contains the information on the primary sequence of amino acids in a protein to be synthesized. The genetic codes is translated is for mRNA, not DNA. The messenger RNA carries the code from the nucleus to the ribosome in the cytoplasm where protein synthesis occurs. It also carries the genetic information copied from the DNA in the form of a series of three-base code “words”, also known as triplets, each of which specifies a particular amino acid. Each nucleotide triplet, called a codon, can be “read” from the mRNA and translated into an amino acid to be incorporated into a protein being synthesized. Messenger RNA is a

Sahar Salimi-Mosavi, Human Biology Program, University of Toronto, Dr. Lili-Naz Hazrati, Department of Laboratory of Medicine and Pathology, Tanz Centre for Research in Neurodegenerative Diseases

There is no mentioning alternative and more sensitive test (Reviewer 2). The reviewer commented that we might miss mild effects of lncRNAs in plasticity and memory storage. Mild effects of lncRNA expression changes will be difficult to dissect in vivo. Given that lncRNAs are critical mediators of transcription and translation, the two key processes that regulate long-term synaptic plasticity, we are confident that we will be able to identify lncRNAs that are critical for synaptic plasticity and memory. We are certainly interested in the mild effects of lncRNAs, but during the two-year funding of this project, we sought to identify and characterize lncRNAs that are necessary for synaptic plasticity and memory

Out of these 31 exons, there are exons known as CREB domains that manage different TFs. Domains include: nuclear receptor interaction domain (NRID), transactivation zinc domains (TAZ1&2-cystein regions), CREB and MYB interaction domain (KIX), the bromo domain (bromo), histone acetyltransferase domain (HAT), and nuclear coactivator binding domain (NCBD), essentially in that order on the CREBBP gene sequence. Mutations can occur at any of these exons, but the most notable mutations occur at the HAT domain. This is due largely because when the protein is not acetylated the promoter site cannot be accessed by TFs [5]. This results in essential proteins for development not being produced, thus causing developmental anomalies. One such anomaly is the Rubenstein-Taybi syndrome (RTS), which is associated directly with CREBBP mutations [8]. Mutations in CREBBP are also associated with Huntington’s disease and acute myeloid leukemia, due to chromosomal

In eukaryotic cells, pre-mRNA undergoes extensive post-transcriptional modifications to become mature mRNA. The modifications to pre-mRNA include 5’ end capping, 3’ end cleavage and polyadenylation, and the splicing of introns (Gu and Lima, 2005). The spliceosome is a large

Ribosomal RNA (rRNA) is a component of the cell’s essential protein factory. Ribosomes bind with the mRNA and transfer the RNA to synthesize and incorporate proteins.

Amonafide is a novel topoisomerase II inhibitor. Topoisomerase II plays critical roles including DNA transcription, replication and chromosome segregation. Though the biological functions of topoisomerase II are important for insuring genomic integrity, the ability to interfere with topoisomerase II and generate enzyme mediated DNA damage is an effective strategy for cancer chemotherapy.

Hypothesis: 5’ untranslated region (5’ UTR) have significant role in regulating mRNA translation. If variant #2 is causative factor, translational regulation of Gene B would be the main cause of affecting phenotype. Transcription begins with 5’ UTR and translation begins with start codon AUG. Although a SNP in 5’UTR would not affect transcription, still there are possibilities that transcription could be altered because of mRNA decay (mRNA stability). The major effect of SNP in 5’UTR would be alteration of translational efficiency. 5’UTR encode translation initiation motif and secondary structures which is related to miRNA-mediated regulation. For example, miRNA can bind to 5’UTR and usually decay and degrade mRNA. When SNP happens in 5’UTR region, it is possible that miRNA could not bind to site and change the translational efficiency.

A.4. Impact. There is a critical need to design a novel strategy targeting ASD risk genes involved in the convergent pathways. Intriguingly, many of the genes implicated in ASD converge onto a few major signaling pathways: the synaptic function, chromatin remodeling, transcription, MAPK and Wnt pathways(6, 20, 21). Although it would be unlikely to have one treatment for all causes of ASD, genetic results present a possibility to target the convergent pathways or circuits thereby limiting the number of interventions. Among ASD risk genes, β-cat not only is a well-known essential component of the canonical Wnt signaling (81, 82), but also plays roles in other convergent pathways: synaptic function(83, 84) and epigenetic/ transcriptional