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Last update 08 May 2025

PAX3

Last update 08 May 2025

Basic Info

Synonyms

HUP2, paired box 3, Paired box protein Pax-3

+ [3]

Introduction

Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087).

Drugs associated with PAX3

PAX3 activators (NIMHANS)

Target

PAX3

Mechanism

PAX3 activators

Active Org.

National Institute of Mental Health and Neurosciences

Originator Org.

National Institute of Mental Health and Neurosciences

Active Indication

Neuroblastoma

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

PFI-90

Target

FOXO1 x KDM1A x PAX3

Mechanism

FOXO1 gene inhibitors [+2]

Active Org.

National Cancer Institute

Originator Org.

National Cancer Institute

Active Indication

Rhabdomyosarcoma

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with PAX3

100 Translational Medicine associated with PAX3

0 Patents (Medical) associated with PAX3

2,002

Literatures (Medical) associated with PAX3

01 Jun 2025·Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Role and regulatory mechanism of DLX5 in rhabdomyosarcoma tumorigenesis

Article

Author: Zheng, Jun ; Zhang, Chaoji ; Gao, Quanli ; Wu, Zining ; Liu, Xinpei ; Ma, Guotao ; Zhao, Yanxue

Rhabdomyosarcoma (RMS), a common malignant tumor in children, presents numerous challenges in clinical treatment. This study investigated the specific functions and regulatory mechanisms of distal-less homeobox 5 (DLX5) in RMS. Data from TCGA, GEO and GEPIA databases were downloaded and analyzed. The effect of DLX5 and PAX3-FOXO1 on RMS cells was examined through cellular experiments. Binding activity between DLX5 and H3K9me2 was assessed using pull-down and chromatin immunoprecipitation-qPCR assays. Additionally, RMS model mice were constructed via xenotransplantation to validate the in vivo effects of DLX5 on RMS. The results revealed that DLX5 was upregulated in RMS tissues and increased in various RMS cell lines, particularly in alveolar RMS cell lines. DLX5 knockdown inhibited malignant biological behaviors. Besides, DLX5 expression was associated with myogenic differentiation of RMS cells. While the overexpression or knockdown of DLX5 did not affect PAX-FOXO1 expression. PAX3-FOXO1 knockdown reduced DLX5 expression, indicating that DLX5 act as a downstream effector of PAX3-FOXO1. Mechanistically, PAX3-FOXO1 regulated DLX5 expression through KDM4B/H3K9me2 axis. In vitro experiments further demonstrated that knockout of DLX5 or KDM4B inhibited tumor growth. In conclusion, DLX5 expression was increased in PAX3-FOXO1-driven RMS, and its knockdown inhibited malignant biological behaviors of RMS cells. Moreover, the aberrant expression of DLX5 in PAX3-FOXO1-driven RMS was regulated by KDM4B/H3K9me2 axis. These findings provided potential therapeutic targets for RMS treatment.

21 Apr 2025·Chemical Research in Toxicology

Perfluorooctane Sulfonate (PFOS) and Related Compounds Induce Nuclear Receptor 4A1 (NR4A1)-Dependent Carcinogenesis

Article

Author: Hailemariam, Amanuel ; Srivastava, Vinod ; Tsui, Wai Ning Tiffany ; McCrindle, Robert ; Safe, Stephen ; Chapkin, Robert S. ; Upadhyay, Srijana ; McAlees, Alan ; Hafiz, Zahin ; Zhang, Lei ; Riddell, Nicole ; Oany, Arafat Rahman ; Rivera-Rodriguez, Jaileen

Polyfluoroalkyl substances (PFAS) are widely used industrial compounds that have been identified as contaminants in almost every component of the global ecosystem, and in human studies, higher levels of PFAS have been correlated with increased incidence of multiple diseases. Based on the results of human and laboratory animal studies, we hypothesize that the orphan nuclear receptor 4A1 (NR4A1) may be a critical target for some PFAS such as the legacy linear polyfluorooctanesulfonate (PFOS) and other sulfonates. We show that PFOS and related compounds bound the ligand binding domain (LBD) of NR4A1 and induced the growth of several cancer cell lines and enhanced tumor growth in an athymic nude mouse model. Using NR4A1-responsive rhabdomyosarcoma Rh30 cells as a model, PFOS induced NR4A1-dependent cell proliferation and Rh30 cell migration and invasion. Moreover, in Rh30 cells, PFOS also induces several NR4A1-regulated genes including the PAX3-FOXO1 oncogene and downstream gene products, and in a chromatin immunoprecipitation assay, PFOS does not decrease NR4A1 binding to the promoter. These results demonstrate that PFOS is an NR4A1 ligand and enhances tumorigenesis through the activation of this receptor.

01 Apr 2025·The Spine Journal

Genome-wide methylation association study in monozygotic twins discordant for curve severity of adolescent idiopathic scoliosis

Article

Author: Feng, Zhenhua ; Dai, Zhicheng ; Zhu, Zezhang ; Qiu, Yong ; Wu, Zhichong ; Xu, Leilei

BACKGROUND CONTEXTEmerging evidence suggests that abnormal DNA methylation patterns may play a role in the progression of adolescent idiopathic scoliosis (AIS). However, the mechanisms underlying the influence of DNA methylation on curve severity remain largely unknown.PURPOSETo characterize the DNA methylation profiles associated with the curve severity of AIS.STUDY DESIGNRetrospective study with prospectively collected clinical data and blood samples.METHODSA total of 7 AIS monozygotic twin pairs discordant for curve severity were included. Genome-wide methylation profile from blood samples were quantified by Illumina Infinium MethylationEPIC BeadChip (850K chip). Cell type composition of the samples was estimated by RefbaseEWAS method. Differentially methylated CpG sites were identified through comparison between patients with low and high Cobb angle. We also performed a gene-based collapsing analysis using mCSEA by aggregating the CpG sites based on promoter region. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis were performed using clusterProfiler package.RESULTSGenome-wide DNA methylation analysis identified multiple differentially methylated positions across the genome. Gene-based collapsing analysis identified 212 differentially methylated genes (FDR adjusted p<.05), most of which (186/212) were hypermethylated in the group with high Cobb angle. Some of the identified genes were well-documented in AIS literature, such as TBX1, PAX3 and LBX1. Functional enrichment analysis revealed that the differentially methylated genes (DMGs) were involved in pattern specification process, skeletal development, muscle function, neurotransmission and several signaling pathways (cAMP, Wnt and prolactin).CONCLUSIONSThe study represents the largest systematic epigenomic analyses of monozygotic twins discordant for curve severity and supports the important role of altered DNA methylation in AIS.CLINICAL SIGNIFICANCEThe identified CpG sites provide insight into novel biomarkers predicting curve progression of AIS. Furthermore, the differentially methylated genes and enriched pathways may serve as interventional therapy target for AIS patients.

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