Variations in U4 and U6 snRNA genes lead to retinitis pigmentosa.
🧬 153 RP cases found with RNU4-2 and RNU6 variants in 67 families
🧬 Variants located in U4/U6 duplex's vital junction
🧬 ~1.4% of undiagnosed RP cases explained by these variants
🧬 Potential impact on tri-snRNP splicing factors
#Genomics #Spliceosome #RetinitisPigmentosa #NoncodingRNA #Pub2Post
"We call CHD2 a ‘Goldilocks Gene,’ because both too little is bad and too much is also bad. There's no reason at all to think that this is an isolated case, but more likely that these long non-coding RNAs and non-coding regions are implicated more broadly across human disorders,” said corresponding study author Gemma Carvill, an assistant professor at Northwestern University.
#genetics #research #science #biology #NonCodingRNA #autism #epilepsy
https://www.labroots.com/trending/genetics-and-genomics/28190/errors-non-coding-rna-cause-disease
The GeneCaRNA human gene database is a member of the GeneCards Suite. It presents ~280,000 human non-coding RNA genes, identified algorithmically from ~690,000 RNAcentral transcripts. This expands by ~tenfold the ncRNA gene count relative to other sources. GeneCaRNA thus contains ~120,000 long non-coding RNAs (LncRNAs, >200 bases long), including ~100,000 novel genes. The latter have sparse functional information, a vast terra incognita for future research. LncRNA genes are uniformly represented on all nuclear chromosomes, with 10 genes on mitochondrial DNA. Data obtained from MalaCards, another GeneCards Suite member, finds 1547 genes associated with 1 to 50 diseases. About 15% of the associations portray experimental evidence, with cancers tending to be multigenic. Preliminary text mining within GeneCaRNA discovers interactions of lncRNA transcripts with target gene products, with 25% being ncRNAs and 75% proteins. GeneCaRNA has a biological pathways section, which at present shows 131 pathways for 38 lncRNA genes, a basis for future expansion. Finally, our GeneHancer database provides regulatory elements for ~110,000 lncRNA genes, offering pointers for co-regulated genes and genetic linkages from enhancers to diseases. We anticipate that the broad vista provided by GeneCaRNA will serve as an essential guide for further lncRNA research in disease decipherment.
As part of a FlyBase and GO consortium project focused on ncRNAs, we have created GO terms to annotate primary GO:0140990 and secondary GO:0140965 piRNA processing, piRNA-mediated retrotransposon silencing by heterochromatin formation GO:0141006 and piRNA-mediated retrotransposon silencing by mRNA destabilization GO:0141009. We welcome any feedback to improve the coverage and accuracy of these annotations.
Interesting benefit of including #noncodingRNA. #NetworkMedicine #NetworkScience
Two new Collaborative Research Centers for which we were an applicant university have been approved by the German Research Foundation. Also the funding for our project "#NonCodingRNA in the #cardiovascularsystem" has been extended: http://go.tum.de/585307
📷A. Heddergott
@CellReports
by Llorca Lab (cniostopcancer ), The Moreno-Herrero Lab (CNB_CSIC), Fortes Lab (CIMA Universidad de Navarra)
Very nicely explained here ⬇️
https://cnio.es/en/news/one-of-the-causes-of-aggressive-liver-cancer-discovered-a-molecular-staple-that-helps-repair-broken-dna/
#cnio #cniostopcancer
#scicomm #cancer #genetics #sketchnote #yourscienceinasketch #hepatocellularcarcinoma #noncodingRNA #dnadamage #DNArepair #biophysics #magnetictweezers #comunicaciencia
Error-correcting mechanisms are very important for cells, because with all the cellular activity constantly going on, malfunctions arise all the time. But when it comes to killing cancer cells, it is in the cells’ best interest to induce errors. Radiotherapy and chemotherapy can cause cellular defects by breaking the DNA of the cells. However, some […]
pub2post
Suweb Reza
Science Updates
WikiPathways
FlyBase
Luis M. Rocha
Technische Universität München
CireniaSketches