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The 3'-untranslated region (3'-UTR) is well known to be associated with the post-transcriptional regulation, because of the presence of important sequences that influence the fate of mRNA, and thus, in protein synthesis. The present study describes a point mutation on the β-globin 3'-UTR, +1506 (A>C) (: c.*32A>C) in an Indian family during prenatal diagnosis (PND) screening of an at-risk couple. The members of the family heterozygous for this mutation presented with a typical β-thalassemia (β-thal) phenotype. The haplotype analysis of the β-globin gene cluster was determined for this mutation and observed to be linked with haplotype [- + - + + + +]. Common α-globin gene deletions, triplication, and the l polymorphism, were also looked for and found to be absent in the family. The identified : c.*32A>C mutation is located in the first adenylate uridylate (AU) motif of the four AU motifs situated in the 3'-UTR region of the β-globin gene. Bioinformatics analysis revealed binding of two miRNAs, hsa-miR-451a and hsa-miR-3914, at the mutation position, possibly influencing the mRNA stability by recruiting RNA binding proteins. This is the third publication reporting the 3'-UTR +1506 (A>C) mutation worldwide and the first report of the existence of this mutation in the Indian population, emphasizing the high heterogeneity of this population.
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Article Synopsis
- Out-of-hospital cardiac arrest is a major global health issue, necessitating effective vascular access for drug administration during resuscitation.
- A clinical trial comparing intraosseous and intravenous methods found that both had similar effectiveness for restoring circulation, with around 30% of patients in each group succeeding.
- At 30 days post-arrest, survival rates and favorable neurologic outcomes also showed no significant differences between the two methods, indicating both approaches are equally viable.
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Proc Natl Acad Sci U S A
January 2024
Department of Biophysics and Biophysical Chemistry, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Exonuclease VII (ExoVII) is a ubiquitous bacterial nuclease. Encoded by the and genes, ExoVII participates in multiple nucleic acid-dependent pathways including the processing of multicopy single-stranded DNA and the repair of covalent DNA-protein crosslinks (DPCs). Although many biochemical properties of ExoVII have been defined, little is known about its structure/function relationships.
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