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Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
Published on: August 25, 2021
Pax genes in embryogenesis and oncogenesis
Qiuyu Wang1, Wen-Hui Fang, Jerzy Krupinski
1School of Biology, Chemistry and Health Science, Manchester Metropolitan University, and Department of Pathology Sciences, Christie Hospital, Manchester, United Kingdom.
Journal of Cellular and Molecular Medicine
|July 17, 2008
Summary
Paired box (PAX) genes are crucial for development and normally silenced in mature cells. Dysregulation of PAX genes, particularly PAX3, contributes to developmental disorders and various cancers by disrupting cell growth and survival.
Area of Science:
- Developmental Biology
- Molecular Oncology
- Genetics
Background:
- Paired box (PAX) genes are conserved developmental control genes encoding transcription factors.
- Their expression is tightly regulated during embryonic development and typically silenced during terminal differentiation.
- Mutations in PAX genes cause developmental abnormalities and are implicated in human cancers.
Purpose of the Study:
- To critically evaluate the role of PAX/Pax genes in oncogenesis.
- To highlight recent advances in understanding how genetic alterations in PAX genes contribute to cancer development.
Main Methods:
- This review synthesizes existing literature on PAX gene function in development and cancer.
- Focuses on genetic alterations and their impact on transcriptional networks.
Main Results:
- PAX gene mutations lead to developmental defects like Waardenburg syndrome and Splotch phenotype.
- PAX3 is specifically linked to rhabdomyosarcoma, melanoma, and neuroblastoma.
- Altered PAX gene activity disrupts transcriptional networks controlling cell differentiation, proliferation, migration, and survival.
Conclusions:
- PAX genes are critical regulators of normal development and cellular processes.
- Their aberrant expression and genetic alterations are significant contributors to oncogenesis.
- Understanding these mechanisms offers insights into cancer development and potential therapeutic targets.
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