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Barbosa, K.

Publications and source records attributed to Barbosa, K..

4 recordsLinked to original sources

Studies of mice with a large deletion of the ARPKD-associated Pkhd1 locus likely explain its GWAS association with glaucoma in humans

PKHD1, the gene primarily mutated in human autosomal recessive polycystic kidney disease, is one of the top 20 genes associated with primary open angle glaucoma (POAG) and associated endophenotypes in Genome-Wide Association Studies. Here, we show that Pkhd1del3-67/del3-67 mutant mice develop congenital glaucoma due to anterior segment dysgenesis. Using a combination of genetic, epigenetic, bioinformatics and mouse developmental biology approaches, we show that Pkhd1del3-67/del3-67 mice lack Tfap2b and AP-2{beta} expression in a subset of periocular mesenchymal cells at E13.5 and its derivatives. Our data suggest that the Pkhd1del3-67 deletion disrupts features of the Pkhd1-Tfap2b genomic architecture essential for Tfap2b cell-specific activities. Consistent with this model, Pkhd1del3-67/+;Tfap2bko/+trans-heterozygotes lack Tfap2b and AP-2{beta} in relevant cell-types and have similar eye abnormalities as neural crest cell-specific Tfap2bko mutants. These findings provide a likely causal explanation for how SNPs associated with PKHD1 are functionally linked to POAG and add insight into understanding the complexity of disease-causing SNP associations and gene regulatory mechanisms.

genetics↗

High Density Domain-Focused CRISPR Screens Reveal Epigenetic Regulators of HOX/MEIS Gene Expression in Acute Myeloid Leukemia

Aberrant expression of stem-cell-associated genes is a common feature in acute myeloid leukemia (AML) and is linked to leukemic self-renewal and therapy resistance. Using AF10-rearranged leukemia as a prototypical example displaying a recurrent "stemness" network activated in AML, we screened for chromatin regulators that sustain aberrant activation of these networks. We deployed a CRISPR-Cas9 screen with a bespoke domain-focused library and identified several novel chromatin-modifying complexes as regulators of the TALE domain transcription factor MEIS1, a key leukemia stem cell (LSC)-associated gene. CRISPR droplet sequencing revealed that many of these MEIS1 regulators coordinately controlled the transcription of several AML oncogenes. In particular, we identified a novel role for the Tudor-domain containing chromatin reader protein SGF29 in the transcription of key AML oncogenes. Furthermore, SGF29 deletion impaired leukemogenesis in models representative of multiple AML subtypes. Our studies reveal a novel role for SGF29 as a non-oncogenic dependency in AML and identify the SGF29 Tudor domain as an attractive target for drug discovery.

cancer biology↗

Acute Myeloid Leukemia Driven by the CALM-AF10 Fusion Gene is Dependent on BMI1

A subset of acute myeloid and lymphoid leukemia cases harbor a t(10;11)(p13;q14) translocation resulting in the CALM-AF10 fusion gene. Standard chemotherapeutic strategies are often ineffective in treating patients with CALM-AF10 fusions. Hence, there is an urgent need to identify molecular pathways dysregulated in CALM-AF10-positive leukemias which may lay the foundation for novel targeted therapies. Here we demonstrate that the Polycomb Repressive Complex 1 gene BMI1 is consistently overexpressed in adult and pediatric CALM-AF10-positive leukemias. We demonstrate that genetic Bmi1 depletion abrogates CALM-AF10-mediated transformation of murine hematopoietic stem and progenitor cells (HSPCs). Furthermore, CALM-AF10-positive murine and human AML cells are profoundly sensitive to the small-molecule BMI1 inhibitor PTC209 as well as to PTC596, a compound in clinical development that has been shown to result in downstream degradation of BMI1 protein. PTC-596 significantly prolongs survival of mice injected with a human CALM-AF10 cell line in a xenograft assay. In summary, these results validate BMI1 as a bonafide candidate for therapeutic targeting in AML with CALM-AF10 rearrangements.

cancer biology↗

HIV-1 antisense protein of different clades induces autophagy and associates to the autophagy factor p62

Over recent years, strong support argues for the existence of an HIV-1 protein encoded by antisense transcripts and termed Antisense Protein (ASP). Furthermore, a recent in silico analysis has provided evidence for its recent appearance in the genome of HIV-1. We have previously detected ASP in various mammalian cell lines by Western blot (WB), flow cytometry and confocal microscopy analyses and reported that it induced autophagy, potentially through multimer formation. The aim of the current study was to examine autophagy induction by testing ASP from different clades, and to identify the implicated autophagy factors. We firstly confirmed that NL4.3-derived ASP was interacting with itself and that multimer formation was dependent on its amino region. Removal of this region was associated with reduced level of induced autophagy, as assessed by autophagosome formation but deletion of the most amino cysteine triplet did not totally abrogate multimer and autophagosome formation. Expression vectors of ASP from different clades were next tested and led to detection of monomers and varying levels of multimers with concomitant induced autophagy, as determined by increased LC3-II and decreased p62 (SQSTM1) levels. Through confocal microscopy, ASP was noted to co-localize with p62 and LC3-II in autophagosome-like cellular structures. CRISPR-based knock-out of ATG5, ATG7 and p62 genes led to increased stability in the levels of ASP. Furthermore, co-immunoprecipitation experiments demonstrated the interaction between p62 and ASP, which was dependent on the PB1 domain of p62. Interestingly, immunoprecipitation experiments further supported that ASP is ubiquitinated and that ubiquitination was also responsible for the modulation of its stability. We are thus suggesting that ASP induces autophagy through p62 interaction and that its abundance is controlled by autophagy- and Ubiquitin/Proteasome System (UPS)-mediated degradation in which ubiquitin is playing an important role. Understanding the mechanisms underlying the degradation of ASP is essential to better assess its function.\n\nAuthor SummaryIn the present study, we provide the first evidence that a new HIV-1 protein termed ASP when derived from different clades act similarly in inducing autophagy, an important cellular process implicated in the degradation of excess or defective material. We have gained further knowledge on the mechanism mediate the activation of autophagy and have identified an important interacting partner. Our studies have important ramification in the understanding of viral replication and the pathogenesis associated with HIV-1 in infected individuals. Indeed, autophagy is implicated in antigen presentation during immune response and could thus be rendered inefficient in infected cells, such as dendritic cells. Furthermore, a possible link with HIV-1-associated Neurological Disorder (HAND) might also be a possible association with the capacity of ASP to induce autophagy. Our studies are thus important and demonstrate the importance in conducting further studies on this protein, as it could represent a new interesting target for antiretroviral therapies and vaccine design.

microbiology↗