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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.
Trans-splicing is a special form of RNA processing where exons from two different primary RNA transcripts are joined end to end and ligated.It is usually found in eukaryotes and mediated by the spliceosome, although some bacteria and archaea also have "half-genes" for tRNAs.
These sequences ultimately lead to the production of all human proteins, although several biological processes (e.g. DNA rearrangements and alternative pre-mRNA splicing) can lead to the production of many more unique proteins than the number of protein-coding genes.
A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing takes place during the processing of precursor messenger RNA into mature messenger RNA. Splice site consensus sequences that drive exon recognition are located at the very termini of introns. [1]
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 ...
Protein A, B and C are isoforms encoded from the same gene through alternative splicing. A protein isoform, or "protein variant", [1] is a member of a set of highly similar proteins that originate from a single gene and are the result of genetic differences. [2] While many perform the same or similar biological roles, some isoforms have unique ...
Muscleblind Like Splicing Regulator 1 (MBNL1) is an RNA splicing protein that in humans is encoded by the MBNL1 gene. [ 5 ] [ 6 ] [ 7 ] It has a well characterized role in Myotonic dystrophy where impaired splicing disrupts muscle development and function. [ 8 ]