title: Regulation of gene expression through inefficient splicing of U12-type introns.
abstract: U12-type introns are a rare class of nuclear introns that are removed by a dedicated U12-dependent spliceosome and are thought to regulate the expression of their target genes owing through their slower splicing reaction. Recent genome-wide studies on the splicing of U12-type introns are now providing new insights on the biological significance of this parallel splicing machinery. The new studies cover multiple different organisms and experimental systems, including human patient cells with mutations in the components of the minor spliceosome, zebrafish with similar mutations and various experimentally manipulated human cells and Arabidopsis plants. Here, we will discuss the potential implications of these studies on the understanding of the mechanism and regulation of the minor spliceosome, as well as their medical implications.
authors.affiliation: a Institute of Biotechnology; Genome Biology Research Program ; University of Helsinki ; Helsinki , Finland.
authors.forename: Elina H
authors.initials: EH
authors.lastname: Niemelä
authors.forename: Mikko J
authors.initials: MJ
authors.lastname: Frilander
mesh_terms: D000818:Animals; D017360:Arabidopsis / Q000235:genetics; D004392:Dwarfism / Q000235:genetics; D005786:Gene Expression Regulation; D006801:Humans; D007438:Introns / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics; D008957:Models, Genetic; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics; D012326:RNA Splicing; D012342:RNA, Small Nuclear / Q000235:genetics / Q000378:metabolism; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics / Q000378:metabolism; D017381:Spliceosomes / Q000235:genetics* / Q000378:metabolism
chemical_list: D012342:RNA, Small Nuclear; D017411:Ribonucleoproteins, Small Nuclear