U4atac minor spliceosomal RNA

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U4atac minor spliceosomal RNA
RF00618.jpg
Predicted secondary structure and sequence conservation of U4atac
Identifiers
Symbol U4atac
Rfam RF00618
Other data
RNA type Gene; snRNA; splicing
Domain(s) Eukaryota
GO 0000355 0000369 0030624 0030627 0005690
SO 0000274

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]

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]

External links[edit]