| 词条 | U4atac minor spliceosomal RNA |
| 释义 |
| Name = U4atac minor spliceosomal RNA | image = RF00618.jpg | width = | caption = Predicted secondary structure and sequence conservation of U4atac | Symbol = U4atac | AltSymbols = | Rfam = RF00618 | miRBase = | miRBase_family = | RNA_type = Gene; snRNA; splicing | Tax_domain = Eukaryota | GO = {{GO|0000355}} {{GO|0000369}} {{GO|0030624}} {{GO|0030627}} {{GO|0005690}} | SO = {{SO|0000274}} | CAS_number = | EntrezGene = | HGNCid = | OMIM = | PDB = | RefSeq = | Chromosome = | Arm = | Band = | LocusSupplementaryData = }}U4atac minor spliceosomal RNA is a ncRNA which is an essential component of the minor U12-type spliceosome complex. The U12-type spliceosome is required for removal of the rarer class of eukaryotic introns (AT-AC, U12-type).[1] U4atac snRNA is proposed to form a base-paired complex with another spliceosomal RNA U6atac via two stem loop regions. These interacting stem loops have been shown to be required for in vivo splicing.[2] U4atac also contains an 3' Sm protein binding site which has been shown to be essential for splicing activity.[2] U4atac is the functional analog of U4 spliceosomal RNA in the major U2-type spliceosomal complex.[2] The Drosophila U4atac snRNA has an additional predicted 3' stem loop terminal to the Sm binding site.[3] DiseaseIt has been shown that mutations in the U4atac snRNA can cause microcephalic osteodysplastic primordial dwarfism type I (MOPD I), also called Taybi-Linder syndrome (TALS). MOPD I is a developmental disorder that is associated with brain and skeletal abnormalities. It has been shown that the mutations cause defective U12 splicing.[4][5] References1. ^{{cite journal |vauthors= Lorkovic ZJ, Lehner R, Forstner C, Barta A |title= Evolutionary conservation of minor U12-type spliceosome between plants and humans |journal= RNA |volume= 11 |issue= 7|pages= 1095–1107 |year= 2005 |pmid=15987817 |doi= 10.1261/rna.2440305 |pmc= 1370794}} 2. ^1 2 {{cite journal |vauthors= Shukla GC, Cole AJ, Dietrich RC, Padgett RA |title= Domains of human U4atac snRNA required for U12-dependent splicing in vivo |journal= Nucleic Acids Res |volume= 30 |issue= 21|pages= 4650–4657 |year= 2002 |pmid=12409455 |doi= 10.1093/nar/gkf609 |pmc= 135832}} 3. ^{{cite journal |vauthors= Padgett RA, Shukla GC |title= A revised model for U4atac/U6atac snRNA base pairing |journal= RNA |volume= 8 |issue= 2|pages= 125–128 |year= 2002 |pmid=11911359 |doi= 10.1017/S1355838202017156 |pmc= 1370236}} 4. ^{{cite journal |author= He, H|title=Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I |journal=Science |volume=332 |issue=6026 |pages=238–240 |year=2011 |pmid=21474760 |doi=10.1126/science.1200587 |url=http://www.sciencemag.org/content/332/6026/238.short |pmc=3380448|display-authors=etal}} 5. ^{{cite journal |author= Edery, P|title=Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA |journal=Science |volume=332 |issue=6026 |pages=240–243 |year=2011 |pmid=21474761 |doi=10.1126/science.1202205 |url=http://www.sciencemag.org/content/332/6026/240.short|display-authors=etal}} External links
3 : Non-coding RNA|Spliceosome|RNA splicing |
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