U4atac minor spliceosomal RNA
|U4atac minor spliceosomal RNA|
|RNA type||Gene; snRNA; splicing|
|GO||0000355 0000369 0030624 0030627 0005690|
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).
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. U4atac also contains an 3' Sm protein binding site which has been shown to be essential for splicing activity. U4atac is the functional analog of U4 spliceosomal RNA in the major U2-type spliceosomal complex.
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.
- 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 . PMID 15987817.
- 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 . 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 . 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 . 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.
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