Tag

Spliceosome

All articles tagged with #spliceosome

science2 days ago•62 min saved

RNU4-2 variant map uncovers two distinct neurodevelopmental disorders

Researchers used saturation genome editing to comprehensively map all possible variants in the 145‑nucleotide RNU4-2 snRNA, defining a central 18‑nucleotide region where mutations drive dominant ReNU syndrome and revealing four other regions whose depletion links to a separate recessive neurodevelopmental disorder, thereby enabling improved diagnosis and insights into underlying mechanisms and pleiotropy within this noncoding RNA.

via Nature|

#dominant-vs-recessive-disorders #renu-syndrome #rnu4-2

genetics11 days ago•47 min saved

RNU2-2 biallelic variants reveal a prevalent recessive neurodevelopmental syndrome

A UK-led genetic analysis of 100KGP and Genomics England data identifies biallelic variants in RNU2-2 as the cause of a recessive neurodevelopmental disorder (ReNU2 syndrome), with strong BeviMed support and replication across multiple cohorts. Affected individuals typically present with intellectual disability, global developmental delay and seizures, and the disorder arises from loss of U2-2 snRNA expression due to destabilizing variants in stem-loop and binding regions of the RNA. Monoallelic carriers show partial compensation by increased U2-1, while biallelic cases exhibit markedly reduced U2-2 in blood. The recessive form is relatively prevalent—about 60% as common as the dominant RNU4-2 ReNU syndrome in the UK—highlighting diagnostic and counseling implications, especially in populations with consanguinity.

via Nature|

#genetics #neurodevelopmental-disorder #recessive-syndrome

genetics3 months ago•63 min saved

Genetic Mutations in Non-Coding RNAs Linked to Retinitis Pigmentosa and Sight Loss

The study identifies de novo and inherited variants in U4 and U6 snRNA genes as causes of autosomal dominant retinitis pigmentosa, expanding the genetic landscape of the disease and highlighting the role of noncoding RNA mutations in retinal degeneration.

via Nature|

#genetic-diagnosis #genetics #retinitis-pigmentosa

science-and-health1 year ago•3 min saved

"Non-Coding Gene Mutation Linked to Intellectual Disability"

Researchers have identified a non-coding gene associated with intellectual disabilities, which encodes an RNA molecule part of the spliceosome complex. This discovery, based on whole genome sequencing data, highlights the importance of looking beyond protein-coding genes to understand genetic causes of neurodevelopmental disorders.

via Ars Technica|

#genetics #intellectual-disability #neurodevelopment

health2 years ago•4 min saved

Unveiling a Hidden Vulnerability in Prostate Cancer

An international research team has discovered a previously unknown weak spot in prostate cancer cells involving a component of the minor spliceosome, which is significantly increased in advanced prostate cancer and drives uncontrolled cell growth. Inhibiting this component led to a significant reduction in prostate cancer growth compared to standard therapies, offering potential for more effective, targeted treatments. This discovery may also have implications for other types of cancer. The research was supported by the US Prostate Cancer Foundation with a $1 million grant.

via SciTechDaily|

#cancer-research #cell-growth #health