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ESEfinder: a Web resource to identify exonic splicing enhancers
ESEfinder: a Web resource to identify exonic splicing enhancers

... ABSTRACT Point mutations frequently cause genetic diseases by disrupting the correct pattern of pre-mRNA splicing. The effect of a point mutation within a coding sequence is traditionally attributed to the deduced change in the corresponding amino acid. However, some point mutations can have much mo ...
the primary transcript
the primary transcript

... interrupted by noncoding segments (introns). Both exons and introns are transcribed in the nucleus. Introns are removed during processing of the RNA molecule in the nucleus. In eukaryotes, all mRNA is monocistronic. The mature mRNA is translated in the cytoplasm. The structure and transcription of a ...
Long Noncoding RNAs Add Another Layer to Pre
Long Noncoding RNAs Add Another Layer to Pre

... a redundant role in MALAT1 localization to speckles. Interestingly, another long ncRNA NEAT1 was recently shown to be critical for the integrity of paraspeckles, nuclear subdomains implicated in the regulation of mRNA nuclear export (Bond and Fox, 2009; Chen and Carmichael, 2009). In agreement with ...
The American Journal of Human Genetics
The American Journal of Human Genetics

... Disruption of Golgi Leads to a Skeletal Dysplasia How does a Golgi-assembly protein with widespread expression lead to what appears to be a tissue-specific phenotype? This question arose during the research of Smits et al., who used a forward genetic approach to find the gene responsible for a neonata ...
Post-transcriptional gene control
Post-transcriptional gene control

... • But why is spliceosome so extremely complicated if it only catalyzes such a straightforward reaction as an intron deletion? Even more, it seems that some introns are capable to excise themselves without aid of any protein, so why have all those 300 subunits? ...
Chapter 8
Chapter 8

... Pre-mRNAs and other nuclear RNAs are collectively known as heterogeneous nuclear RNA (hnRNA). hnRNA is extensively bound to binding proteins, and complexes between hnRNA and protein are called heterogeneous ribonucleoprotein particles (hnRNP). Binding proteins function by preventing hnRNA from formi ...
Chapter 14 – RNA molecules and RNA processing
Chapter 14 – RNA molecules and RNA processing

... • 5 snRNPs and several other proteins ...
second of Chapter 10: RNA processing
second of Chapter 10: RNA processing

... molecules were larger than predicted, based on protein structure. • In 1977, internal, non-coding sequences were discovered. • These internal, non-coding sequences are called introns. ...
MBch13(2008)
MBch13(2008)

... The curious case of the Drosophila Dscam gene: Mutually exclusive splicing on a grand scale ...
ESTs to genome
ESTs to genome

... How can we break the regulatory code? 1. Comparative genomics  2. High throughput methods ...
Lecture 6 (09/11/2007): Finding Genes from Genomes
Lecture 6 (09/11/2007): Finding Genes from Genomes

... Exons are interspersed with introns and typically flanked by GT and AG ...
Slide 1
Slide 1

... is statistically significant. Larger that you would expect based random natural ...
CRS questions
CRS questions

... 3) It has been estimated that approximately half of human genes yield mRNAs of different sequences because the splicing of introns can vary among different tissues and cellular circumstances. Consider what would be the consequence of splicing RNAs in different ways; different proteins would be produ ...
View/Open - JEWLScholar@MTSU
View/Open - JEWLScholar@MTSU

... •Not all genes in the genome are expressed in every cell. •Regulation of gene expression can occur at many levels including transcription, splicing, nuclear export, RNA decay, and translation. •Alternative mRNA splicing, which is a common gene regulation mechanism in eukaryotes, occurs when one gene ...
here
here

... The neuropilin-2 (NRP2) gene is localized to 2q34, an autism susceptibility locus. NRP2 has been demonstrated to both guide axons and to control neuronal migration in the central nervous system. It has been reported that NRP2 may be required in vivo for sorting migrating cortical and ...
RNA processing
RNA processing

... ends of the primary transcript – RNAse P (a ribozyme) cleaves the 5’ end, and RNAse D the 3’ end – Following RNAse D cleavage, a CCA sequence is enzymatically polymerized onto the 3’ end of the tRNA – This sequence is necessary for the tRNA to accept and bond to its specific amino acid ...
View attached file
View attached file

... exons to one that recognizes short exons amid a sea of introns. The average human protein-coding gene, for example, is 28,000 nucleotides long, with 8.8 exons separated by 7.8 introns. The exons are relatively short, usually about 120 nucleotides, whereas the introns can range from 100 to 100,000 ...
Cut, Print: Our Emerging Understanding of Alternative Splicing
Cut, Print: Our Emerging Understanding of Alternative Splicing

... to the 5’ end of the splice site, and U2 auxiliary factor (U2AF) to the 3’ splice site. ...
problem set
problem set

... of the transcript at the cleavage and polyadenylation site in the fifth intron. However, the splicing of the fifth intron is efficient in muscle cells. This removes the cleavage and polyadenylation signal and results in a longer spliced mRNA containing all 10 exons. A muscle-specific splicing factor ...
Gene splicing
Gene splicing

...  Are described as conforming to the GT-AG rule.  Within the intron is another highly conserved sequence this region (called the branch site) is the area that connects to the 5' end of the intron as it is cut and then curls around to form a lariat shape.  which is removed from the maturing RNA. ...
reduce usage of proper splice site
reduce usage of proper splice site

... • difference is in the first transesterification (see later) • Group I introns use a free G nucleotide to catalyze reaction • Group II splicing is similar reaction to that in pre-mRNA splicing ...
Phenotypic variability of osteogenesis imperfecta is not accounted
Phenotypic variability of osteogenesis imperfecta is not accounted

... Osteogenesis imperfecta (OI) is caused by mutations in COL1A1 on chromosome 17 or COL1A2 on chromosome 7. Similar mutations in each gene exhibit widely variable phenotypes, and genotype-phenotype correlations have not been fully elucidated. Pre-mRNA is regulated by both intronic and exonic splicing ...
Composition of splicing complex in chloroplasts identified
Composition of splicing complex in chloroplasts identified

... chloroplasts identified for the first time 2 July 2013, by Dr. Julia Weiler From gene to protein – craftwork required Genes, the bearers of genetic information, contain coding and non-coding regions. To convert a gene into a protein, enzymes first create a copy of the gene, the messenger RNA. A usef ...
Gene Section THRAP3 (thyroid hormone receptor associated protein 3)
Gene Section THRAP3 (thyroid hormone receptor associated protein 3)

... FF domains of CA150 (Smith et al., 2004; Ingham et al., 2005). Therefore TRAP150 has been proposed to function in coupling of transcription and pre-mRNA processing (Auboeuf et al., 2005). ...
Alternative Splicing A very short introduction (in plants)
Alternative Splicing A very short introduction (in plants)

... “The data presented here demonstrate the existence of alternative splicing in plant systems, but the physiological significance of synthesizing two forms of rubisco activase remains unclear. However, this process may have important implications in photosynthesis. if these polypeptides were functiona ...
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Alternative splicing



Alternative splicing is a regulated process during gene expression that results in a single gene coding for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene. Consequently the proteins translated from alternatively spliced mRNAs will contain differences in their amino acid sequence and, often, in their biological functions (see Figure). Notably, alternative splicing allows the human genome to direct the synthesis of many more proteins than would be expected from its 20,000 protein-coding genes. Alternative splicing is sometimes termed differential splicing.Alternative splicing occurs as a normal phenomenon in eukaryotes, where it greatly increases the biodiversity of proteins that can be encoded by the genome; in humans, ~95% of multi-exonic genes are alternatively spliced. There are numerous modes of alternative splicing observed, of which the most common is exon skipping. In this mode, a particular exon may be included in mRNAs under some conditions or in particular tissues, and omitted from the mRNA in others.The production of alternatively spliced mRNAs is regulated by a system of trans-acting proteins that bind to cis-acting sites on the primary transcript itself. Such proteins include splicing activators that promote the usage of a particular splice site, and splicing repressors that reduce the usage of a particular site. Mechanisms of alternative splicing are highly variable, and new examples are constantly being found, particularly through the use of high-throughput techniques. Researchers hope to fully elucidate the regulatory systems involved in splicing, so that alternative splicing products from a given gene under particular conditions could be predicted by a ""splicing code"".Abnormal variations in splicing are also implicated in disease; a large proportion of human genetic disorders result from splicing variants. Abnormal splicing variants are also thought to contribute to the development of cancer.
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