Генетика, Год журнала: 2024, Номер 60(4), С. 34 - 46
Опубликована: Сен. 11, 2024
Язык: Английский
Генетика, Год журнала: 2024, Номер 60(4), С. 34 - 46
Опубликована: Сен. 11, 2024
Язык: Английский
Russian Journal of Genetics, Год журнала: 2024, Номер 60(4), С. 460 - 470
Опубликована: Апрель 1, 2024
Язык: Английский
Процитировано
1Frontiers in Molecular Neuroscience, Год журнала: 2024, Номер 17
Опубликована: Авг. 1, 2024
Neurodevelopmental disorders (NDDs) represent a large group of with an onset in the neonatal or early childhood period; NDDs include intellectual disability (ID), autism spectrum (ASD), attention deficit hyperactivity (ADHD), seizures, various motor disabilities and abnormal muscle tone. Among many underlying Mendelian genetic causes for these conditions, genes coding proteins involved all aspects gene expression pathway, ranging from transcription, splicing, translation to eventual RNA decay, feature rather prominently. Here we focus on two families helicases (DEAD- DExH-box helicases). Genetic variants several have recently been shown be associated NDD. We address constraints helicases, types pathological which discovered discuss biological pathways affected helicase are involved.
Язык: Английский
Процитировано
1eLife, Год журнала: 2024, Номер 13
Опубликована: Ноя. 15, 2024
RNA-binding proteins (RBPs) perform diverse functions including the regulation of chromatin dynamics and coupling transcription with RNA processing. However, our understanding their actions in mammalian neurons remains limited. Using affinity purification, yeast-two-hybrid proximity ligation assays, we identified interactions multiple RBPs neural retina leucine (NRL) zipper, a Maf-family factor critical for retinal rod photoreceptor development function. In addition to splicing, many NRL-interacting are associated R-loops, which form during increase maturation. Focusing on DHX9 helicase, demonstrate that its expression is modulated by NRL NRL-DHX9 interaction positively influenced R-loops. ssDRIP-Seq analysis reveals both stranded unstranded R-loops at distinct genomic elements, characterized active inactive epigenetic signatures enriched neuronal genes. binds types suggesting an epigenetically independent Our findings suggest additional highlight complex among factors, RBPs, regulating gene retina.
Язык: Английский
Процитировано
0Journal of Bio-X Research, Год журнала: 2024, Номер 7
Опубликована: Янв. 1, 2024
DDX21 belongs to the DEAD-box (DDX) family of helicases but deviates from characteristic sequence Asp–Glu–Ala–Asp (DEAD) Asp–Glu–Val–Asp. In addition typical helicase activity associated with family, also possesses foldase and adenosine triphosphatase activities. It plays crucial roles in various molecular processes, including regulation transcription, ribosomal RNA processing, modification, unwinding spatial structures. is subject intricate by multiple upstream factors, expression control posttranslational modification. numerous cancer types, abnormal has been observed influence cell behaviors, such as cycle, proliferation, invasion, migration, apoptosis. addition, modulates innate immunity following viral infection a dual role process. This review comprehensively explores protein structure, regulatory mechanisms, pathophysiological functions DDX21. Consequently, this study not only offers potential avenues for future research sparks novel ideas targeted treatments both infections.
Язык: Английский
Процитировано
0Генетика, Год журнала: 2024, Номер 60(4), С. 34 - 46
Опубликована: Сен. 11, 2024
Язык: Английский
Процитировано
0