Existing compendia of non-coding RNA (ncRNA) are incomplete, in part because they are derived almost exclusively from small and polyadenylated RNAs. Here we present a more comprehensive atlas of the human transcriptome, which includes small and polyA RNA as well as total RNA from 300 human tissues and cell lines. We report thousands of previously uncharacterized RNAs, increasing the number of documented ncRNAs by approximately 8%. To infer functional regulation by known and newly characterized ncRNAs, we exploited pre-mRNA abundance estimates from total RNA sequencing, revealing 316 microRNAs and 3,310 long non-coding RNAs with multiple lines of evidence for roles in regulating protein-coding genes and pathways. Our study both refines and expands the current catalog of human ncRNAs and their regulatory interactions. All data, analyses and results are available for download and interrogation in the R2 web portal, serving as a basis for future exploration of RNA biology and function.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1038/s41587-021-00936-1 | DOI Listing |
Nat Commun
January 2025
Division of Genome Analysis Platform Development, National Cancer Center Research Institute, Tokyo, Japan.
Genomic variants causing abnormal splicing play important roles in genetic disorders and cancer development. Among them, variants that cause the formation of novel splice-sites (splice-site creating variants, SSCVs) are particularly difficult to identify and often overlooked in genomic studies. Additionally, these SSCVs are frequently considered promising candidates for treatment with splice-switching antisense oligonucleotides (ASOs).
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Background: Biorepositories play an integral role in the advancement of our understanding of neurodegenerative diseases and improving human health outcomes. Research efforts are accelerated when access to high-quality clinical specimens is made available from a large, diverse participant group. Indiana University is home to three important neurodegenerative disease-focused biorepositories including the NIA-funded National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD), the NINDS-funded Biospecimen Exchange for Neurological Disorders (BioSEND), and the Michael J.
View Article and Find Full Text PDFBackground: Age-related neurodegenerative disorders (NDDs) continuum includes late-onset Alzheimer's disease (LOAD), Dementia with Lewy bodies (DLB), and Parkinson's disease (PD) exhibit shared and distinct clinicopathological characteristics. Each of the different NDDs is characterized by a complex genetic etiology and although numerous loci have been identified via GWAS, and the causal genes and the specific neuronal and glial cell subtypes through which they exert their pathogenic effects are yet to be fully elucidated. We aimed to untangle the genetic complexity of NDDs, and to identify shared and distinct biological pathways and disease driver cell-subtypes across NDDs.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Vanderbilt Genetics Institute and Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Background: Studies suggest that approximately 60 to 70 percent of the variability observed in cognitive abilities during aging can be attributed to genetic factors. Therefore, investigating the longitudinal multiomics changes associated with alterations in cognitive measures, such as the Mini-Mental State Examination (MMSE) score, is of utmost importance.
Method: Longitudinal changes in gene and protein expression related to MMSE scores were examined in the Cameron County Hispanic Cohort (CCHC), an extensively phenotyped, randomly-recruited, cohort of Mexican Americans residing at the US-Mexico border.
Background: Late-life depression (LLD) often coincides with cognitive decline, impacting antidepressant treatment outcomes. Investigating the genetic profile of cognitive function and its association with antidepressant response in individuals with LLD is crucial.
Method: In the Incomplete Response in Late-Life Depression: Getting to Remission (IRL-GRey) study, 307 older adults with major depressive disorder underwent 12-week venlafaxine treatment.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!