Splicing factors as regulators of miRNA biogenesis - links to human disease
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
Authors: Ratnadiwakara, Madara; Mohenska, Monika; Anko, Minna-Liisa
Abstract
MicroRNAs ( miRNAs) are small non-coding RNAs that regulate gene expression post-transcriptionally by fine-tuning mRNA levels and translation during development and in adult tissues. miRNAs are transcribed as parts of longer precursors that undergo multiple processing steps before the mature miRNAs reach their target mRNAs in the cytoplasm. In addition to Drosha/DGCR8 and Dicer that are the essential components of the miRNA processing pathway, a range of other RNA binding proteins have recently been implicated in miRNA biogenesis. Among these, several well-known splicing factors have emerged as regulators of distinct miRNAs. In this review, we examine the mechanisms by which splicing factors regulate miRNA biogenesis. As both splicing factors and miRNAs play central roles in human disease biology we discuss implications of the links between splicing factors and miRNAs in human disease. (C) 2017 Elsevier Ltd. All rights reserved.
MicroRNA Gene Polymorphisms in Congenital Anomalies of the Kidney and Urinary Tract
CUKUROVA MEDICAL JOURNAL
Authors: Tezol, Ozlem; Delibas, Ali; Ay, Ozlem Izci; Karakas, Umit; Tasdelen, Bahar; Erdal, Mehmet Emin
Abstract
Purpose: Pathogenesis of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) is unknown. A strong genetic contribution is emphasized. In this study we investigated the role of microRNA gene polymorphism in CAKUT. Material and Methods: 147 patients with CAKUT [(Ureteropelvic junction obstruction n: 39, vesicoureteral reflux (VUR) (n: 37), renal parenchymal malformations (n: 43), anomalies of renal embryonic migration (n: 28)] and 51 healthy children were enrolled in the study. RNASEN, DGCR8, XPO5, RAN, DICER1, GEMIN3 gene polymorphisms were studied. Results: When the patient and control group were compared by polymorphisms no statistically significant difference was found. But GEMIN3 mutant allel frequency was significantly higher in VUR group than renal parenchymal malformation group. Conclusions: Mutant alleles of the GEMIN3 gene might be related to VUR pathogenesis within the context of the CAKUT spectrum. But studies with larger number of patients are required to delineate the association between CAKUT pathogenesis and microRNA gene polymorphisms.