The expression and function of PAX3 in development and disease

Boudjadi, Salah; Chatterjee, Bishwanath; Sun, Wenlu; Vemu, Prasantha L.; Barr, Frederic G.

doi:10.1016/j.gene.2018.04.087

Cited by 82 publications

(66 citation statements)

References 170 publications

(200 reference statements)

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“…Pax3 -deficient embryos also exhibit heart outflow tract defects and lack limb musculature (Morgan et al, 2008). Interestingly, while Pax3 is a transcription factor that regulates genes involved in multiple developmental lineages, it also has a transactivation domain-independent role as a negative regulator of p53 (Boudjadi et al, 2018). In particular, Pax3 can bind to p53 and stimulate Mdm2-mediated degradation of p53, with loss Pax3 leading to increased p53 protein levels (Wang et al, 2011a).…”

Section: Increased P53 Activity Contributes To the Developmental Defementioning

confidence: 99%

The role of p53 in developmental syndromes

Bowen

Attardi

2019

Journal of Molecular Cell Biology

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While it is well appreciated that loss of the p53 tumor suppressor protein promotes cancer, growing evidence indicates that increased p53 activity underlies the developmental defects in a wide range of genetic syndromes. The inherited or de novo mutations that cause these syndromes affect diverse cellular processes, such as ribosome biogenesis, DNA repair, and centriole duplication, and analysis of human patient samples and mouse models demonstrates that disrupting these cellular processes can activate the p53 pathway. Importantly, many of the developmental defects in mouse models of these syndromes can be rescued by loss of p53, indicating that inappropriate p53 activation directly contributes to their pathogenesis. A role for p53 in driving developmental defects is further supported by the observation that mouse strains with broad p53 hyperactivation, due to mutations affecting p53 pathway components, display a host of tissue-specific developmental defects, including hematopoietic, neuronal, craniofacial, cardiovascular, and pigmentation defects. Furthermore, germline activating mutations in TP53 were recently identified in two human patients exhibiting bone marrow failure and other developmental defects. Studies in mice suggest that p53 drives developmental defects by inducing apoptosis, restraining proliferation, or modulating other developmental programs in a cell type-dependent manner. Here, we review the growing body of evidence from mouse models that implicates p53 as a driver of tissue-specific developmental defects in diverse genetic syndromes.

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Section: Increased P53 Activity Contributes To the Developmental Defementioning

confidence: 99%

The role of p53 in developmental syndromes

Bowen

Attardi

2019

Journal of Molecular Cell Biology

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“…Wang et al links Akt and MAPK pathways to NF-κB through Bcl3 and provides mechanistic insight into how Bcl3 functions as an oncoprotein through collaboration with IKK1/2, Akt, and Erk2 [33] . Boudjadi et al investigated that PAX3 contributes to the pathogenesis of the soft tissue cancers alveolar rhabdomyosarcoma and biphenotypic sinonasal sarcoma [34] . However, CAPRIN2, IFI44, LTV1, ZNF320, XPOT, are rarely explored, therefore, we believe these genes mentioned in the context have more experimental significance in further studies.…”

Section: Discussionmentioning

confidence: 99%

A novel prognostic predictor for clear cell renal cell carcinoma constructed by weighted gene co-expression correlation network analysis

Li¹,

Jin²,

Guo³

et al. 2020

Preprint

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Background Clear cell renal cell carcinoma (ccRCC) accounts the largest proportion of all types of renal tumor, it is highly invasive leading to shorter survival time of patients suffer from tumor. This study aims at constructing a new prognostic signature to provide a new reference for clinic work to adjust treatment protocols. Material and Methods Comprehensive gene expression profiles of ccRCC were downloaded from The Cancer Genome Atlas (TCGA). Weighted gene co-expression network analysis (WGCNA), a genome-wide profiling analysis, was applied to investigate key genes associated with clinical traits. Cox regression analysis was conducted to screen prognostic gene in ccRCC. LASSO analysis was used to enhance the robust of correlated genes. Then, a prognostic signature was developed as an independent factor to predict outcomes of ccRCC patients. Results The co-expression network was constructed by WGCNA, 26 modules were identified in total, including a module (grey) showed no significance. By associating the features with clinic features, we selected three modules (pink, purple and turquoise) significantly associated with the overall survival(OS) of ccRCC patients. Univariate Cox analysis for genes from each module separately and then we used LASSO regression to screen the significant genes for selecting potential prognosis element-genes. 8 genes (CAPRIN2, IFI44, LTV1, ZNF320, MTHFR, XPOT, BCL3 and PAX2) finally reserved by multivariate COX regression. ScoreW was defined as a prognosis modelestablished by the final potential prognosis 8 genes. Multivariate regression suggested the ScoreW was an independent prognosis predicting element. ROC curve method was performed and the AUC value of ScoreW showed satisfied and attractive clinical prognosis importance. Conclusion Our findings provided the framework of co-expression gene modules of ccRCC and identified valuable prognostic method might be detection for ccRCC patients.

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“…The oncogenic role of PAX3 has also been investigated in many different tumor entities including melanoma, resulting in a potential involvement of this gene in tumor progression (Mascarenhas et al, 2010; Boudjadi et al, 2018).…”

Section: Similitude Between Melanocyte Specification and Melanoma Promentioning

confidence: 99%

Stem Cell-Derived Models of Neural Crest Are Essential to Understand Melanoma Progression and Therapy Resistance

Larribère

Utikal

2019

Front. Mol. Neurosci.

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During development, neural crest (NC) cells are early precursors of several lineages including melanocytes. Along their differentiation from multipotent cells to mature melanocytes, NC cells will go through successive steps which require either proliferative or motile capacities. For example, they will undergo Epithelial to Mesenchymal Transition (EMT) in order the separate from the neural tube and migrate to their final location in the epidermis ( Larribere and Utikal, 2013 ; Skrypek et al., 2017 ). The differentiated melanocytes are the cells of origin of melanoma tumors which progress through several stages such as radial growth phase, vertical growth phase, metastasis formation, and often resistance to current therapies. Interestingly, depending on the stage of the disease, melanoma tumor cells share phenotypes with NC cells (proliferative, motile, EMT). These phenotypes are tightly controlled by specific signaling pathways and transcription factors (TFs) which tend to be reactivated during the onset of melanoma. In this review, we summarize first the main TFs which control these common phenotypes. Then, we focus on the existing strategies used to generate human NCs. Finally we discuss how identification and regulation of NC-associated genes provide an additional approach to improving current melanoma targeted therapies.

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The expression and function of PAX3 in development and disease

Cited by 82 publications

References 170 publications

The role of p53 in developmental syndromes

The role of p53 in developmental syndromes

A novel prognostic predictor for clear cell renal cell carcinoma constructed by weighted gene co-expression correlation network analysis

Stem Cell-Derived Models of Neural Crest Are Essential to Understand Melanoma Progression and Therapy Resistance

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