U4atac minor spliceosomal RNA
| U4atac minor spliceosomal RNA | |
|---|---|
 Predicted secondary structure and sequence conservation of U4atac | |
| Identifiers | |
| Symbol | U4atac |
| Rfam | RF00618 |
| Other data | |
| RNA type | Gene; snRNA; splicing |
| Domain(s) | Eukaryota |
| GO | GO:0000355 GO:0000369 GO:0030624 GO:0030627 GO:0005690 |
| SO | SO:0000274 |
| PDB structures | PDBe |
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 a 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]
Disease
[edit]It 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]
References
[edit]- ^ Lorkovic ZJ, Lehner R, Forstner C, Barta A (2005). "Evolutionary conservation of minor U12-type spliceosome between plants and humans". RNA. 11 (7): 1095–1107. doi:10.1261/rna.2440305. PMC 1370794. PMID 15987817.
- ^ a b c Shukla GC, Cole AJ, Dietrich RC, Padgett RA (2002). "Domains of human U4atac snRNA required for U12-dependent splicing in vivo". Nucleic Acids Res. 30 (21): 4650–4657. doi:10.1093/nar/gkf609. PMC 135832. PMID 12409455.
- ^ Padgett RA, Shukla GC (2002). "A revised model for U4atac/U6atac snRNA base pairing". RNA. 8 (2): 125–128. doi:10.1017/S1355838202017156. PMC 1370236. PMID 11911359.
- ^ He, H; et al. (2011). "Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I". Science. 332 (6026): 238–240. doi:10.1126/science.1200587. PMC 3380448. PMID 21474760.
- ^ Edery, P; et al. (2011). "Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA". Science. 332 (6026): 240–243. doi:10.1126/science.1202205. PMID 21474761. S2CID 11354957.
External links
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