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EGAS00001000571-sc-20140319 - samples

ABSTRACT: We are interested in the contribution mutations in the Shelterin complex protein POT1 may have to the development of melanoma. We have identified a patient who carries a splice site mutation in POT1 and as part of our analysis of this gene we aim to sequence the transcriptome of this patient to see how this mutation influences splicing. RNA has been obtained from lymphocytes collected from the patient.

PROVIDER: EGAD00001000786 | EGA |

REPOSITORIES: EGA

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POT1 splice site mutant analysis

Project description:We are interested in the contribution mutations in the Shelterin complex protein POT1 may have to the development of melanoma. We have identified a patient who carries a splice site mutation in POT1 and as part of our analysis of this gene we aim to sequence the transcriptome of this patient to see how this mutation influences splicing. RNA has been obtained from lymphocytes collected from the patient.

| EGAS00001000571 | EGA

DNMT3A R882H mutation in JAK2 V617F AML cell line SET-2

Project description:We present cell line SET-2 as potential model system for DNA methylation analysis. This cell line was established from a patient with essential thrombocythemia at megakaryoblastic transformation and carries the JAK2 V617F mutation. Cell line SET-2 carries the DNMT3A R882H mutation, recurrent in cytogenetically normal AML.

2019-11-13 | E-MTAB-8323 | biostudies-arrayexpress

Splicing Variation Contributes to Functional Dysregulation of Genes in Acute Myeloid Leukemia

Project description:Acute Myeloid Leukemia (AML) has been associated with somatic mutations in numerous genes; however, the penetrance of these mutations is low. Here we investigate the contribution of alternative splicing as an additional layer of gene dysregulation in AML. By analyzing splicing variations across two patient datasets, we find a consistent set of splicing events that disrupt the coding potential of a subset of AML-associated genes. Importantly, most of these splicing variations are independent of any currently-identified somatic mutations. We have further validated that for EZH2 and ZRSR2 these splicing events reduce the expression of full-length protein. Together these results highlight the contribution of splicing to gene dysregulation and demonstrate that mutation analysis underestimates the burden of functional gene disruption in patient populations.

2021-04-01 | GSE142514 | GEO

PacBio sequencing of Cp/Wp-driven transcripts from B95-8 LCLs

Project description:PacBio sequencing was performed to identify alternative splice patterns of Cp/Wp-driven transcripts. We were particularly interested in splicing from Cp/Wp exons to the HF exon. The HF exon contains pri-miR-BHRF1-2 and 1-3, so splicing to the HF exon would indicate that these pri-miRNAs are capable of regulating the 5' EBNA-LP ORF in cis through excision by Drosha.

2018-01-31 | GSE102102 | GEO

Alterations in liver and epididymal white adipose tissue (eWAT) gene expression in mice with a global ablation of the NcoRω splice isoform of the corepressor Ncor1

Project description:A knockin mouse line created that contains a point mutation that elminates the requisite GT in the 5' donor site of each of the NCoRω splice variants, thus preventing splicing at that site and forcing splicing of the reciprocal NcoRδ splice variant.

2020-10-27 | GSE160121 | GEO

Effect specific ablation of the NCoR corepressor delta and omega splice-variants on liver gene expression

Project description:Knockin mice were created that contained a point mutation that elminated the requisite GT in the 5' donor site of each of the NCoRω or NCoRδ splice variants, thus preventing splicing at that site and forcing splicing of the reciprocal splice variant.

2020-09-11 | GSE157761 | GEO

Loss of the RNA trimethylguanosine cap is compatible with nuclear accumulation of spliceosomal snRNAs but not pre-mRNA splicing or snRNA processing during animal development

Project description:The 2,2,7-trimethylguanosine (TMG) cap is synthesized by the conserved Tgs1 enzyme, which is abundantly present on snRNAs essential for pre-mRNA splicing. In our study, we characterize new mutations in the Drosophila tgs1 gene and studied their effects on development and on splicing. Utilizing a hypomorphic tgs1 mutation, we uncovered a prominent role of Tgs1 in pre-mRNA splicing, particularly of introns with smaller sizes and weaker splice sites. Remarkably, stronger tgs1 mutations generated by CRISPR-Cas9 cause lethality without disrupting splicing, likely due to the preponderance of a maternal contribution and stable TMG capped snRNAs maintaining a near normal level of TMG modified snRNAs, which further proved that the TMG modification is important in splicing.

2020-10-09 | GSE143488 | GEO

Species-specific splicing differences are primarily governed by changes in cis-acting sequences

Project description:We assessed whether human transcripts expressed in an aneuploid mouse that carries human chromosome 21 (HsChr21) are spliced in a human-specific or mouse-specific fashion. In almost all cases, human-specific alternative splicing is maintained in the mouse nucleus. Species-specific splicing therefore appears to be primarily directed by cis-acting elements, rather than changes in the levels or activities of trans-acting factors. Approximately 485 million Illumina 50-nt sequence reads were generated for brain and liver tissues from normal human, Tc0 (wildtype) mouse and Tc1 mouse strains. Sequence reads were mapped to splice junctions and %in levels were estimated.

2012-12-01 | E-GEOD-31454 | biostudies-arrayexpress

Transcriptional profiling of liver samples from Lmna Gly609Gly knock-in mice

Project description:Hutchinson-Gilford Progeria Syndrome (HGPS) is caused by a point mutation in the LMNA gene that activates a cryptic donor splice site and yields a truncated form of prelamin A called progerin. Small amounts of progerin are also produced during normal aging. Studies with mouse models of HGPS have allowed the recent development of the first therapeutic approaches for this disease. However, none of these earlier works have addressed the aberrant and pathogenic LMNA splicing observed in HGPS patients because of the lack of an appropriate mouse model. We report herein a genetically modified mouse strain that carries the HGPS mutation. These mice accumulate progerin, present histological and transcriptional alterations characteristic of progeroid models, and phenocopy the main clinical manifestations of human HGPS, including shortened life span and bone and cardiovascular aberrations. By using this animal model, we have developed an antisense morpholino–based therapy that prevents the pathogenic Lmna splicing, dramatically reducing the accumulation of progerin and its associated nuclear defects. Treatment of mutant mice with these morpholinos led to a marked amelioration of their progeroid phenotype and substantially extended their life span, supporting the effectiveness of antisense oligonucleotide–based therapies for treating human diseases of accelerated aging. 6 samples, three from LmnaG609G/G609G mice and three from control Lmna+/+ mice

2012-01-13 | E-GEOD-32609 | biostudies-arrayexpress

Multi-omics analysis of RNA binding, splicing and turnover alterations induced by mutant U2AF1 in myeloid malignancies.

Project description:Splicing factor mutations are common among cancers, recently emerging as drivers of myeloid malignancies. U2AF1 carries hotspot mutations in its RNA binding motifs; yet how they affect splicing and promote cancer remains unclear. The U2AF1/U2AF2 heterodimer is critical for 3’ splice site (3’SS) definition. To specifically unmask changes in U2AF1 function in vivo, we developed a crosslinking and immunoprecipitation procedure detecting contacts between U2AF1 and the 3’SS AG at single-nucleotide resolution (fractionated eCLIP-seq or freCLIP-seq). Our data reveal that U2AF1 S34F and Q157R mutants establish new 3’SS contacts at -3 and +1 nucleotides, respectively. These effects compromise U2AF2-RNA interactions, resulting predominantly in intron retention and exon exclusion. Integrating RNA binding (eCLIP-seq and freCLIP-seq), splicing (RNA-seq) and turnover (TimeLapse-seq or TL-seq) data, we predicted that U2AF1 mutations directly affect stress granule components. Remarkably, U2AF1-mutant cell lines and patient-derived MDS/AML blasts displayed a heightened stress granule response, pointing to a novel role for biomolecular condensates in adaptive oncogenic strategies. Keywords: splicing, RNA binding, U2AF1, U2AF2, S34F, Q157R, hotspot mutations, 3'SS, 3' splice site, myeloid malignancies, eCLIP, freCLIP, RNA-seq, RNA turnover, TimeLapse-seq, TL-seq, RNA granules, stress granules, stress response, biomolecular condensates, MDS, AML

2022-03-17 | GSE195620 | GEO

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