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Biology subjects

Franitza, M.

Publications and source records attributed to Franitza, M..

5 recordsLinked to original sources

Gene expression adaptation of metastases to their host tissue

The adaptation of metastatic cells to their host tissue critically determines the pathogenicity of a cancer and therefore patient survival. Yet, it remains elusive to what extent the host environment drives gene expression programs in metastatic cells. Here we identify adaptive mechanisms that enable metastases to establish themselves in a novel tissue context. We performed single-cell RNA-sequencing on malignant and benign tissue samples from untreated donors with colorectal adenocarcinoma and liver metastasis to deduce tissue adaptive expression patterns. A novel computational approach identified genes and pathways that consistently adapted to the host tissue at the transition from the primary tumor to the paired metastasis across donors. This analysis revealed that the majority of expression changes in the metastasis reflect an expression signature reminiscent of benign liver epithelial cells. Cellular processes adapting to the liver environment include basic cellular functions such as energy metabolism, as well as tissue-specific pathways such as the regulation of lipid metabolism by PPAR-. These adaptations potentially increase the pathogenicity of the metastatic cells and may provide new therapeutic strategies.

cancer biology↗

Single cell analysis of Barrett's esophagus and carcinoma reveals cell types conferring risk via genetic predisposition

Inherited genetic variants contribute to Barretts esophagus (BE) and esophageal adenocarcinoma (EAC) but it is unknown which cell types are involved in this process. We performed single cell RNA-sequencing of BE, EAC and paired normal tissues and integrated data of a genome-wide association study to determine cell type-specific genetic risk and cellular processes that contribute to BE and EAC. The analysis revealed that EAC development is driven to a greater extent by local cellular processes than BE development. One cell type of BE origin (BE-EAC) and cellular processes that control the differentiation of columnar cells are of particular relevance for EAC development. Further, specific subtypes of fibroblasts and endothelial cells contribute to BE and EAC development, while dendritic cells and CD4+ memory T cells contribute exclusively to BE development. The diagnostic use of markers characterizing the identified cell types and cellular processes should be explored in future for EAC prediction.

cancer biology↗

SMG1:SMG8:SMG9-complex integrity maintains robustness of nonsense-mediated mRNA decay

Nonsense-mediated mRNA decay (NMD) is a translation-dependent mRNA turnover pathway, which degrades transcripts containing premature termination codons. SMG1-mediated phosphorylation of the key NMD factor UPF1 is essential for NMD initiation and regulated by SMG9 and the C-terminus of SMG8. However, their specific roles in NMD regulation within intact cells remain partially understood. Here, we deleted the C-terminus of en-dogenous SMG8 in human cultured cells, which resulted in unchanged NMD activity. Cell lines lacking SMG8 and SMG9 showed slight NMD inhibition and unchanged UPF1 phosphorylation levels, but were sensitized to treatment with a SMG1 inhibitor (SMG1i). Transcriptome-wide analysis revealed the upregulation of NMD-annotated transcripts, which corresponded to synergistic effects of SMG1i concentration and SMG8 and SMG9 knock-out conditions. Moreover, the UPF1 interactome showed enrichment of various NMD factors in SMG8 or SMG9 knock-out cells and following SMG1i treatment, suggesting an accumulation of stalled NMD complexes at various stages of the NMD process. Together, our work uncovers important roles of SMG8 and SMG9 in maintaining NMD robustness in human cells.

molecular biology↗

Rapid UPF1 depletion illuminates the temporal dynamics of the NMD-regulated transcriptome in human cells

The helicase UPF1 acts as the central essential factor in human nonsense-mediated mRNA decay (NMD) and is involved in various other mRNA degradation processes. Given its multifunctionality, distinguishing between mRNAs regulated directly and indirectly by UPF1 remains a critical challenge. We engineered two different conditional degron tags into endogenous UPF1 in human cell lines to probe the consequences of UPF1 rapid depletion. UPF1 degradation inhibits NMD within hours and strongly stabilizes endogenous NMD substrates, which can be classified into different groups based on their expression kinetics. Extended UPF1 depletion results in massive transcript and isoform alterations, partially driven by secondary effects. We define a high-confidence UPF1-regulated core set of transcripts, which consists mostly of NMD substrates. NMD-regulated genes are involved in brain development and the integrated stress response, among other biological processes. In summary, UPF1 degron systems rapidly inhibit NMD, providing valuable insights into its roles across various experimental systems.

molecular biology↗

P2Y6 receptor signaling in natural killer cells impairs insulin sensitivity in obesity

Natural killer (NK) cells contribute to the development of obesity-associated insulin resistance and have previously been shown to up-regulate the expression of the P2Y purinoreceptor 6 (P2Y6R) upon high fat diet (HFD)-induced obesity. Here, we reveal that NK cell-specific inactivation of the P2Y6R gene improves insulin sensitivity in obese mice and reduces the expression of chemokines in adipose tissue infiltrating NK-cells. Obese mice lacking P2Y6R specifically in NK cells exhibited a reduction in adipose tissue inflammation, exhibited improved insulin-stimulated suppression of lipolysis in adipose tissue and a reduction in hepatic glucose production, leading to an overall improvement of systemic insulin sensitivity. In contrast, myeloid lineage specific P2Y6R inactivation does not affect energy or glucose homeostasis in obesity. Collectively, we show that P2Y6R signaling in NK cells contributes to the development of obesity-associated insulin resistance and thus might be a future target for the treatment of obesity-associated insulin resistance and type 2 diabetes.

immunology↗