An example is a pathogenic mutation in the GRN 5′UTR in the splice donor site of noncoding exon 1 [69]. Variant carriers have significantly reduced GRN mRNA and protein levels in blood. The variant changes the
Both the exon and promoter of the non-coding RNA RMRP were significantly mutated in multiple types of cancer (Fig. 1b, Extended Data Fig. 5c). Germline RMRP mutations cause cartilage–hair hypoplasia, and previous in vitro studies have shown that some somatic promoter mutations are functional16...
HeartENN, which provides variant-level scores, as does the multifaceted DeepSEA algorithm that uncovered noncoding DNVs in autism9, defined significantly more DNVs in CHD probands. Separate analyses of prioritized human fetal heart enhancers identified distinct and some overlapping DNVs in CHD cases....
Clones 1 and 2 that harbor the insertion were expanded and analyzed for ThymoD exon3 and Bcl11b expression by real-time PCR. Expression abundance is shown by comparing Bcl11b to ARP transcript levels. Results show the mean ± SD (n = 4–7). As a first approach to examine potential ...
(ORFs) purely by chance, it has been a challenge to determine whether a transcript is noncoding [43]. As a growing number of studies have shown that several lncRNAs and circRNAs can produce functional micropeptides [44,45,46,47], it is necessary to evaluate the RNA coding potential of ...
(RNA-seq) dataset to measure transcript levels at all relevant stages of the asexual infection cycle ofB.hordei, which allowed us to provide manually curated high-quality genome-wide annotations of coding genes, TEs, and lncRNAs. TEs exhibited signs of time point-specific regulation and co-...
A first possible scenario for lncRNA emergence is metamorphosis of protein-coding gene into non-coding RNA sequence. A protein-coding gene may under go mutations such as a frame shift that disrupts its open reading frame while maintaining the expression of the RNA transcript. For example, Xist ...
Zhao, X. et al. A long noncoding RNA contributes to neuropathic pain by silencing Kcna2 in primary afferent neurons.Nat. Neurosci.16, 1024–1031 (2013). ArticleCASPubMedPubMed CentralGoogle Scholar Modarresi, F. et al. Inhibition of natural antisense transcriptsin vivoresults in gene-specific...
The long intergenic noncoding RNA-p21 (lincRNA-p21; ~3.1 kb, 2-exon transcript, located near the p21 gene) has a p53-binding motif in its promoter. It acts to repress many genes transcriptionally regulated by p53 and is aberrantly expressed in several types of cancer, including CRC. ...
deletion for sample AU-19401 upstream ofUNC5D,a gene encoding a receptor implicated in neuronal axon guidance and cell survival. (d) Non-coding biallelic deletion for sample AU-18301. The homozygous deletion interrupts a non-coding gene (NUTM2B-AS1), a broadly expressed antisense transcript on...