title: Alteration of processing induced by a single nucleotide polymorphism in pri-miR-126.
abstract: MicroRNAs (miRNAs) are small non-coding RNAs that inhibit expression of specific target genes at the post-transcriptional level. Sequence variations in miRNA genes, including pri-miRNAs, pre-miRNAs and mature miRNAs, could potentially influence the processing and/or target selection of miRNAs. In this study, we have found the single nucleotide polymorphism (SNP) at the twenty-fourth nucleotide (+24) of the mature miR-126 in the genome of RS4;11 cells, derived from a MLL-AF4 ALL patient. Through a series of in vivo analyzes, we found that this miR-126 SNP significantly blocks the processing of pri-miRNA to mature miRNA, as well as reduces miRNA-mediated translational suppression. Moreover, its frequency is different among races. Thus, our study emphasizes the importance of identifying new miRNA SNP and its contribution to miRNA biogenesis which is possible link to human genetic disease.
authors.affiliation: Division of Molecular Therapy, Advanced Clinical Research Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
authors.forename: Ratanakanit
authors.initials: R
authors.lastname: Harnprasopwat
authors.forename: Daon
authors.initials: D
authors.lastname: Ha
authors.forename: Takae
authors.initials: T
authors.lastname: Toyoshima
authors.forename: Harvey
authors.initials: H
authors.lastname: Lodish
authors.forename: Arinobu
authors.initials: A
authors.lastname: Tojo
authors.forename: Ai
authors.initials: A
authors.lastname: Kotani
mesh_terms: D045744:Cell Line, Tumor; D004194:Disease / Q000235:genetics*; D006801:Humans; D035683:MicroRNAs / Q000235:genetics* / Q000378:metabolism*; D020641:Polymorphism, Single Nucleotide; D014176:Protein Biosynthesis / Q000235:genetics; D012323:RNA Processing, Post-Transcriptional
chemical_list: C527111:MIRN126 microRNA, human; D035683:MicroRNAs