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RNA splicing is a process in molecular biology where a newly-made ... genome-wide studies in humans have identified a range of genes that are subject to allele ...
Alternative splicing, alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to produce different splice variants. For example, some exons of a gene may be included within or excluded from the final RNA product of the gene. [ 1 ]
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.
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]
D-to-J recombination occurs first in the β-chain of the TCR. This process can involve either the joining of the D β 1 gene segment to one of six J β 1 segments or the joining of the D β 2 gene segment to one of six J β 2 segments. [3] DJ recombination is followed (as above) with V β-to-D β J β rearrangements.
Three pathogenic genes that cause early onset AD in humans have been identified, specifically amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2). [202] Over 300 mutations have been detected in these genes, resulting in an increase in total β-amyloid (Aβ), Aβ42/40 ratio, and/or Aβ polymerization.
This process is called noncanonical splicing, as opposed to U2-dependent canonical splicing. U12-type introns represent less than 1% of all introns in human cells. However they are found in genes performing essential cellular functions. Illustration of exons and introns in pre-mRNA. The mature mRNA is formed by splicing.
67996 Ensembl ENSG00000124193 ENSMUSG00000016921 UniProt Q13247 Q3TWW8 RefSeq (mRNA) NM_006275 NM_026499 RefSeq (protein) NP_006266 NP_080775 Location (UCSC) Chr 20: 43.46 – 43.47 Mb Chr 2: 162.77 – 162.78 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Splicing factor, arginine/serine-rich 6 is a protein that in humans is encoded by the SFRS6 gene. Function The protein encoded ...
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