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

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

1. 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.
2. 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.
3. Padgett RA, Shukla GC (2002). "A revised model for U4atac/U6atac snRNA base pairing". RNA. 8 (2) S1355838202017156: 125–128. doi:10.1017/S1355838202017156. PMC   1370236 . PMID   11911359.
4. 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. Bibcode:2011Sci...332..238H. doi:10.1126/science.1200587. PMC   3380448 . PMID   21474760.
5. Edery, P; et al. (2011). "Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA". Science. 332 (6026): 240–243. Bibcode:2011Sci...332..240E. doi:10.1126/science.1202205. PMID   21474761. S2CID   11354957.

External links

• Page for U4atac minor spliceosomal RNA at Rfam