Topic
Exon
About: Exon is a research topic. Over the lifetime, 38308 publications have been published within this topic receiving 1745408 citations. The topic is also known as: exons.
Papers published on a yearly basis
Papers
More filters
TL;DR: It is reported that the two corresponding bilirubin transferases and the phenol transferase are encoded by a novel locus, UGT1, which is also predicted to encode three other bilirUBin transferase-like isozymes all having identical carboxyl termini.
463 citations
TL;DR: Comparisons between the sequences of v- myb and c-myb indicate that transduction of c-Myb to form v-myB probably resulted from an initial DNA rearrangement and the subsequent use of a spliced RNA as an intermediate.
462 citations
TL;DR: Findings show that the -141C Ins/Del may be a functional polymorphism in the 5'-promoter region of DRD2 and may affect the susceptibility to schizophrenia.
Abstract: An excess dopaminergic activity may be implicated in the etiology of schizophrenia. Our objective was to identify nucleotide variants in the 5' region of the dopamine D2 receptor gene (DRD2) and to clarify their effects on schizophrenia. We identified two polymorphisms, the A-241G and -141C Ins/Del, by examination of 259 bp in the 5'-flanking region and 249 bp of exon 1 of DRD2. Reporter constructs containing the -141C Del allele cloned into a luciferase reporter plasmid drove 21% (Y-79 cells) and 43% (293 cells) expression compared with the -141C Ins allele. In a case-control study, the -141C Del allele frequency was significantly lower in 260 schizophrenic patients than in 312 controls (OR = 0.60, 95%CI 0.44-0.81, P < 0.001). No significant association was found between the A-241G polymorphism and in vitro luciferase activity, or in allele frequency between the patients versus controls. These findings show that the -141C Ins/Del may be a functional polymorphism in the 5'-promoter region of DRD2 and may affect the susceptibility to schizophrenia.
462 citations
TL;DR: The aim of this work is to provide the basic facts about TDP-43 an assessment of the multiple functions ascribed to this protein and to suggest that it may be involved in other cellular processes such as microRNA biogenesis, apoptosis, and cell division.
Abstract: TDP-43 is a RNA/DNA binding protein that structurally resembles a typical hnRNP protein family member and displays a significant specificity for binding the common microsatellite region (GU/GT)n. Initially described as a regulator of HIV-1 gene expression, it has been reported in the past to affect both normal and pathological RNA splicing events. In particular, it has been shown to play a fundamental role in the occurrence of several monosymptomatic/full forms of Cystic Fibrosis caused by pathological skipping of CFTR exon 9 from the mature mRNA. Recently, and in a way probably unrelated to splicing, a hyperphosphorylated form of TDP-43 has also been found to accumulate in the cytoplasm of neuronal cells of patients affected by fronto temporal lobar degenerations. In addition to its role in transcription and splicing regulation, a growing body of evidence indirectly suggests that TDP-43 may be involved in other cellular processes such as microRNA biogenesis, apoptosis, and cell division. The aim of this work is to provide the basic facts about TDP-43 an assessment of the multiple functions ascribed to this protein.
462 citations
TL;DR: A number of repetitive sequences were identified including 14 Alu repeats and a approximately 670-base pair TCTA simple repeat in intron 40 that is polymorphic.
460 citations