U4atac minor spliceosomal RNA
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
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