Group II introns are among the largest ribozymes in nature. They have a highly complex tertiary architecture that enables them to catalyze numerous processes, including self-splicing and transposition reactions that have probably contributed to the evolution of eukaryotic genomes. Biophysical analyses show that, despite their large size, these RNAs can fold to their native state through direct pathways that are populated by structurally defined intermediates. In addition, proteins have specific and important roles in this folding process. As a consequence, the study of the group II introns provides a valuable system for both exploring the driving forces behind the folding of multidomain RNA molecules and investigating ribonucleoprotein assembly.
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http://dx.doi.org/10.1016/j.tibs.2007.01.005 | DOI Listing |
Front Immunol
December 2024
Blood Group Reference Laboratory, Dalian Blood Center, Dalian, China.
Background: Mutations in the ABO gene, including base insertions, deletions, substitutions, and splicing errors, can result in blood group subgroups associated with the quantity and quality of blood group antigens. Here, we employed third-generation PacBio sequencing to uncover a novel allele arising from an intron splice site mutation, which altered the expected A phenotype to manifest as an Ael phenotype. The study aimed to characterize the molecular mechanism underlying this phenotypic switch.
View Article and Find Full Text PDFPsychiatry Investig
December 2024
Mental Health Research Institute, National Center for Mental Health, Seoul, Republic of Korea.
Objective: The coronavirus disease-2019 (COVID-19) pandemic's social isolation has significantly impacted mental health, increasing depression and anxiety. This study explores the effects of social isolation on both humans and mice, focusing on behavioral changes and hippocampal protein expression. It also investigates genetic alterations through single-cell RNA and whole-genome sequencing (WGS).
View Article and Find Full Text PDFHepatol Int
January 2025
Division of Gastroenterology and Hepatology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
Background/purpose: Although metabolic dysfunction-associated steatotic liver disease (MASLD) has been proposed to replace the diagnosis of non-alcoholic fatty liver disease (NAFLD) with new diagnostic criteria since 2023, the genetic predisposition of MASLD remains to be explored.
Methods: Participants with data of genome-wide association studies (GWAS) in the Taiwan Biobank database were collected. Patients with missing data, positive for HBsAg, anti-HCV, and alcohol drinking history were excluded.
HGG Adv
January 2025
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Inherited genetics represents an important contributor to risk of esophageal adenocarcinoma (EAC), and its precursor Barrett's esophagus (BE). Genome-wide association studies have identified ∼30 susceptibility variants for BE/EAC, yet genetic interactions remain unexamined. To address challenges in large-scale G×G scans, we combined knowledge-guided filtering and machine learning approaches, focusing on genes with (A) known/plausible links to BE/EAC pathogenesis (n=493) or (B) prior evidence of biological interactions (n=4,196).
View Article and Find Full Text PDFFront Plant Sci
December 2024
Consejo Nacional de Humanidades, Ciencias y Tecnologías (CONAHCYT)-Facultad de Ciencias Químicas, Universidad Veracruzana, Orizaba, Veracruz, Mexico.
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