Intronic sequences are often regarded as 'nonsense' transcripts that are rapidly degraded. We highlight here recent studies on intronic sequences that play regulatory roles as long noncoding RNAs (lncRNAs) which are classified as sisRNAs. Interestingly, sisRNAs come in different forms and are produced via a variety of ways. They regulate genes at the DNA, RNA, and protein levels, and frequently engage in autoregulatory feedback loops to ensure cellular homeostasis under normal and stress conditions. Future directions, evolutionary insights, and potential implications of dysregulated sisRNAs are also discussed, especially in relation to human pathogenesis.
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http://dx.doi.org/10.1016/j.tibs.2018.09.016 | DOI Listing |
Mol Genet Genomic Med
March 2025
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Background: Whole exome sequencing (WES) aids in diagnosing monogenic diseases, yet > 50% of all cases remain undiagnosed. We aimed to improve diagnostic precision by developing an effective WES-based strategy for detecting congenital anomalies.
Methods: Initially, 128 probands with congenital anomalies were assessed using trio-WES and copy number variation analysis-variant interpretation was for exons and splice sites.
Int J Mol Sci
March 2025
Department of Cardiology, Centre of Postgraduate Medical Education, Grochowski Hospital, 04-073 Warsaw, Poland.
Premature myocardial infarction (MI) risk factors, including genetic ones, are crucial for an individual risk stratification. The aim of this study was to investigate the role of genetic variants in young patients with MI and a family history of premature atherosclerosis (FHpa). The studied group consisted of 70 patients aged 26-49 (mean 43.
View Article and Find Full Text PDFInt J Mol Sci
February 2025
College of Animal Science and Technology, Northwest A&F University, No. 22 Xinong Road, Yangling District, Xianyang 712100, China.
The plateau pika (pl-pika), a resilient mammal of the Qinghai-Tibet Plateau, exhibits remarkable adaptations to extreme conditions. This study delves into mutations within the () gene, crucial for high-altitude survival. Surprisingly, a novel 6-bp insertion/deletion (indel) mutation in 's Intron 13, along with an additional repeat unit downstream, was discovered during PCR amplification.
View Article and Find Full Text PDFInt J Mol Sci
February 2025
Engineering Technology Research Center of National Forestry and Grassland Administration on Southwest Landscape Architecture, College of Landscape Architecture and Horticulture Sciences, Southwest Forestry University, Kunming 650224, China.
Distant hybridization between and related genera serves as an effective approach for rapeseed germplasm innovation. , a wild relative of , has emerged as a valuable genetic resource for rapeseed improvement due to its medicinal properties. This study employed anchor mapping of alien chromosomal fragment localization (AMAC) method to efficiently identify alien chromosomal fragments in the progeny derived from distant hybridization between and , 'Songyou No.
View Article and Find Full Text PDFInt J Mol Sci
February 2025
Institute for Cellular and Molecular Medicine, Faculty of Health Sciences, University of Pretoria, Pretoria 0084, South Africa.
Neonatal encephalopathy suspected to be due to hypoxic ischaemic encephalopathy (NESHIE) carries the risk of death or severe disability (cognitive defects and cerebral palsy). Previous genetic studies on NESHIE have predominantly focused on exomes or targeted genes. The objective of this study was to identify genetic variants associated with moderate-severe NESHIE through whole-genome, unbiased analysis.
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