X-Nico

unusual facts about splicing



A P Valentine

His named was derived by splicing the beginning of his sire's name "A P" with the holiday that he was born on, "Valentine's Day."

Alternative splicing

The Sxl protein is a splicing repressor that binds to an ISS in the RNA of the Tra transcript near the upstream acceptor site, preventing U2AF protein from binding to the polypyrimidine tract.

Cytochrome P450 reductase

Five missense mutations (A284P, R454H, V489E, C566Y, and V605F) and a splicing mutation in the POR genes have been found in patients who had hormonal evidence for combined deficiencies of two steroidogenic cytochrome P450 enzymes - P450c17 CYP17A1, which catalyzes steroid 17α-hydroxylation and 17,20 lyase reaction, and P450c21 21-Hydroxylase, which catalyzes steroid 21-hydroxylation.

Eteplirsen

Eteplirsen is a Morpholino antisense oligomer which triggers excision of exon 51 during pre-mRNA splicing of the dystrophin RNA transcript.

Exonic splicing enhancer

Disruption of an exon splicing ehancer in exon 3 of MLH1 gene is the cause of HNPCC (hereditary non polyposis colorectal cancer) in a Quebec family.

History of Stanford Medicine

In 1980 Stanford University and the University of California, San Francisco received a patent for gene splicing and cloning technologies - a catalyst for the nascent biotechnology industry.

Krypto

In the Elseworlds story JLA: The Nail Krypto is an early product of an experiment in splicing Kryptonian DNA to Earth creatures.

Minor spliceosome

The minor spliceosome is a ribonucleoprotein complex that catalyses the removal (splicing) of an atypical class of spliceosomal introns (U12-type) from eukaryotic messenger RNAs in plant, insects, vertebrates and some fungi (Rhizopus oryzae).

Mir-124 microRNA precursor family

Makeyev et al. showed that miR-124 directly targets PTBP1 (PTB/hnRNP I) mRNA, which encodes a global repressor of alternative pre-mRNA splicing in non-neuronal cells.

Polypyrimidine tract-binding protein

Polypyrimidine tract-binding protein is an RNA-binding protein, also known as PTB or hnRNP I. PTB functions mainly as a splicing regulator, although it is also involved in alternative 3' end processing, mRNA stability and RNA localization.

Ribozyme

The first ribozymes were discovered in the 1980s by Thomas R. Cech, who was studying RNA splicing in the ciliated protozoan Tetrahymena thermophila and Sidney Altman, who was working on the bacterial RNase P complex.

SFRS6

The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12.

Small nucleolar RNA SNORD115

There is evidence that a truncated form of MBII-52 (SNORD115 found in mouse) regulates the alternative splicing of the protein coding genes DPM2, TAF1, RALGPS1, PBRM1, and CRHR1.

Survival of motor neuron

A lack of SMN due to SMN1 deletion results in widespread splicing defects, especially in spinal motor neurons, and is one cause of spinal muscular atrophy.

U2 spliceosomal RNA

Complementary binding between U2 snRNA (in an area lying towards the 5' end but 3' to hairpin I) and the branchpoint sequence (BPS) of the intron results in the bulging out of an unpaired adenosine, on the BPS, which initiates a nucleophilic attack at the intronic 5' splice site, thus starting the first of two transesterification reactions that mediate splicing.


see also