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Several genetic diseases may be the result of splice site mutations. For example, mutations that cause the incorrect splicing of β-globin mRNA are responsible of some cases of β-thalassemia. Another Example is TTP (thrombotic thrombocytopenic purpura). TTP is caused by deficiency of ADAMTS-13. A splice site mutation of ADAMTS-13 gene can ...
Indeed, genome-wide studies in humans have identified a range of genes that are subject to allele-specific splicing. In plants, variation for flooding stress tolerance correlated with stress-induced alternative splicing of transcripts associated with gluconeogenesis and other processes.
In humans, it is widely believed that ~95% of multi-exonic genes are alternatively spliced to produce functional alternative products from the same gene [2] but many scientists believe that most of the observed splice variants are due to splicing errors and the actual number of biologically relevant alternatively spliced genes is much lower.
Determining the complete set of components involved in splicing presents many challenges due to the abundance of alternative splicing, which occurs in most human genes, and the specificity in which splicing is carried out in vivo. [2] Splicing is distinctly conducted from cell type to cell type and across different stages of cellular development.
Mutations in this gene have been recurrently seen in cases of advanced chronic lymphocytic leukemia, [12] myelodysplastic syndromes [13] and breast cancer. [14] SF3B1 mutations are found in 60%-80% of patients with refractory anemia with ring sideroblasts (RARS; which is a myelodysplastic syndrome) or RARS with thrombocytosis (RARS-T; which is a myelodysplastic syndrome/myeloproliferative ...
The light chain genes possess either a single (Cκ) or four (Cλ) Constant gene segments with numerous V and J gene segments but do not have D gene segments. [3] DNA rearrangement causes one copy of each type of gene segment to go in any given lymphocyte, generating an enormous antibody repertoire; roughly 3×10 11 combinations are possible ...
Its operon is an example of a prokaryotic silencer. The three functional genes in this operon are lacZ, lacY, and lacA. [6] The repressor gene, lacI, will produce the repressor protein LacI which is under allosteric regulation. These genes are activated by the presence of lactose in the cell which acts as an effector molecule that binds to LacI ...
Many human diseases have been reported to be associated with trinucleotide repeat expansions including Huntington's disease. [7] The HD gene [ 8 ] is found in all human genomes. In the event that a slippage event occurs there can be a large expansion in the tandem repeats of the HD gene. [ 8 ]