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55 results for “regulatory mutation”
MITF/miR-579-3p novel regulatory axis controls BRAF-mutated melanoma decision between cell senescence or progression upon exposure to MAPK inhibitors.
<p><strong>Abstract</strong></p> <p>Therapy of metastatic melanoma has improved dramatically over the last years thanks to the development of targeted therapies (MAPK inhibitors) and immunotherapies. However, drug resistance continues to be a major limitation to the efficacy of these therapies. Our research group has provided robust evidence as to the involvement of a set of microRNAs in the development of resistance to target therapy in BRAF-mutated melanoma cell lines. Among them, a pivotal role is played by miR-579-3p, whose role as oncosuppressor was discovered by our group some years ago. Here we show that miR-579-3p and the microphthalmia-associated transcription factor (MITF) influence reciprocally their expression through positive feedback regulatory loops. In particular we show that miR-579-3p is specifically deregulated in BRAF-mutant melanomas and that its expression levels mirror those of MITF. Luciferase and ChIP studies show that MITF is a positive regulator of miR-579-3p, which is located in the intron 11 of the human gene ZFR (Zink-finger recombinase) and is co-transcribed with its host gene. Moreover, miR-579-3p, by targeting BRAF is able to stabilize MITF protein thus inducing its own transcription. As a consequence, upon exposure to MAPK inhibitors or, alternatively upon miR-579-3p transfection, the activation of this newly uncovered miR-579-3p/MITF axis induces a potent block of proliferation and senescence of BRAF-mutant melanoma cells. Moreover, the long term development of resistance to MAPKi is able to select cells characterized by the loss of both miR-579-3p and MITF and the same down-regulation is also present in patients relapsing after targeted therapies treatments. Altogether these findings suggest that miR-579-3p/MITF interplay potentially governs the balance between proliferation, senescence and resistance to target therapies in BRAF-mutant melanomas.</p> <p><strong>KEYWORDS: </strong></p> <p><strong>Acknowledgements</strong></p> <p>This study was supported by Italian Association for Cancer Research (AIRC) grants IG19865 to G. Ciliberto and IG24451 to R. Mancini and by the Lazio Innova grants 2018 n. 85-2017-13750 and 2020 n. A0375-2020-36657 to R. Mancini and by Italian Minister of Health grant PRIN 2017 (Prot. 2017HWTP2K) to G. Ciliberto and R. Mancini, by Italian Minister of Health through “Ricerca Corrente” grant L2/1 to P.A. Ascierto. The study was also supported by Lega Italiana per la Lotta ai Tumori (LILT) grant n. 2021U0001637 to L. Fattore. We thank all patients who donated samples for this research.</p>
Data from: Genetic regulatory network motifs constrain adaptation through curvature in the landscape of mutational (co)variance
Systems biology is accumulating a wealth of understanding about the structure of genetic regulatory networks, leading to a more complete picture of the complex genotype-phenotype relationship. However, models of multivariate phenotypic evolution based on quantitative genetics have largely not incorporated a network-based view of genetic variation. Here we model a set of two-node, two-phenotype genetic network motifs, covering a full range of regulatory interactions. We find that network interactions result in different patterns of mutational (co)variance at the phenotypic level (the M-matrix), not only across network motifs but also across phenotypic space within single motifs. This effect is due almost entirely to mutational input of additive genetic (co)variance. Variation in M has the effect of stretching and bending phenotypic space with respect to evolvability, analogous to the curvature of space-time under general relativity, and similar mathematical tools may apply in each case. We explored the consequences of curvature in mutational variation by simulating adaptation under divergent selection with gene flow. Both standing genetic variation (the G-matrix) and rate of adaptation are constrained by M, so that G and adaptive trajectories are curved across phenotypic space. Under weak selection the phenotypic mean at migration-selection balance also depends on M.
Data from: Genetic regulatory network motifs constrain adaptation through curvature in the landscape of mutational (co)variance
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Epigenetic identity in AML is mostly dependent on disruption of non-promoter regulatory elements and reveals potentially antagonistic effects of mutations in epigenetic modifiers [mouse]
GEO Series GSE96744. Homo sapiens; Mus musculus. 7 samples. Type: Methylation profiling by high throughput sequencing; Third-party reanalysis.
Single-Cell multi-omics reveals disrupted gene regulatory landscape and cell differentiation by Wilms tumor-associated ENL mutation in the developing kidney (snATAC-Seq)
GEO Series GSE243868. Mus musculus. 2 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
Epigenetic identity in AML is mostly dependent on disruption of non-promoter regulatory elements and reveals potentially antagonistic effects of mutations in epigenetic modifiers
GEO Series GSE98350. Homo sapiens. 126 samples. Type: Third-party reanalysis; Methylation profiling by high throughput sequencing.
Single-Cell multi-omics reveals disrupted gene regulatory landscape and cell differentiation by Wilms tumor-associated ENL mutation in the developing kidney (RNA-Seq)
GEO Series GSE243867. Homo sapiens. 18 samples. Type: Expression profiling by high throughput sequencing.
Single-Cell multi-omics reveals disrupted gene regulatory landscape and cell differentiation by Wilms tumor-associated ENL mutation in the developing kidney (scRNA-Seq)
GEO Series GSE243870. Mus musculus. 3 samples. Type: Expression profiling by high throughput sequencing.
Activating mutations remodeled the chromatin accessibility landscape to drive distinct regulatory networks in KMT2A-rearranged acute leukemia
GEO Series GSE248468. Mus musculus. 16 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
Regulatory mechanisms and metabolic changes of miRNA during leaf color change in the bud mutation branches of Acer pictum subsp. mono.
GEO Series GSE212656. Acer pictum subsp. mono. 6 samples. Type: Expression profiling by high throughput sequencing.
Natural mutations in the sensor kinase of the PhoPR two-component regulatory system modulate virulence of ancestor-like tuberculosis bacilli
GEO Series GSE229680. Mycobacterium tuberculosis; Mycobacterium canetti. 12 samples. Type: Expression profiling by high throughput sequencing.
MicroRNA and mRNA regulatory network in EGFR-mutated lung adenocarcinoma [mRNA]
GEO Series GSE119267. Homo sapiens. 155 samples. Type: Expression profiling by array.
Natural regulatory mutations elevate fetal globin via disruption of BCL11A or ZBTB7A binding
GEO Series GSE103445. Homo sapiens. 16 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
Epigenetic identity in AML is mostly dependent on disruption of non-promoter regulatory elements and reveals potentially antagonistic effects of mutations in epigenetic modifiers [human]
GEO Series GSE86952. Homo sapiens. 119 samples. Type: Methylation profiling by high throughput sequencing.
Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility
GEO Series GSE136769. Mus musculus. 28 samples. Type: Expression profiling by high throughput sequencing.
Probing the regulatory effects of specific mutations in three major binding domains of the pleiotropic regulator CcpA of Bacillus subtilis
GEO Series GSE69575. Bacillus subtilis subsp. subtilis str. 168; Bacillus subtilis. 24 samples. Type: Expression profiling by array.
A regulatory circuitry between the Gria2 mRNA and miR-409/miR-495 is altered in mESC-derived motor neurons carrying an ALS-associated FUS mutation
GEO Series GSE101097. Mus musculus. 15 samples. Type: Expression profiling by high throughput sequencing; Non-coding RNA profiling by high throughput sequencing.
Pleiotropic effects of trans-regulatory mutations on gene expression and fitness
GEO Series GSE175398. Saccharomyces cerevisiae. 188 samples. Type: Expression profiling by high throughput sequencing.
Altered gene-regulatory function of KDM5C by a novel mutation associated with autism and intellectual disability
GEO Series GSE104319. Mus musculus. 4 samples. Type: Expression profiling by high throughput sequencing.
MicroRNA and mRNA regulatory network in EGFR-mutated lung adenocarcinoma
GEO Series GSE119269. Homo sapiens. 310 samples. Type: Expression profiling by array; Non-coding RNA profiling by array.
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
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DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.