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PMID: 18627422 Published · ppublish English Journal Article Review

Pax genes in embryogenesis and oncogenesis.

Journal of cellular and molecular medicine ·Vol. 12 ·No. 6A ·2008-12-00 ·Pages 2281-94

Wang Q, Fang WH, Krupinski J, Kumar S, Slevin M, Kumar P

Abstract

The paired box genes are a family of nine developmental control genes, which in human beings (PAX) and mice (Pax) encode nuclear transcription factors. The temporal and spatial expressions of these highly conserved genes are tightly regulated during foetal development including organogenesis. PAX/Pax genes are switched off during the terminal differentiation of most structures. Specific mutations within a number of PAX/Pax genes lead to developmental abnormalities in both human beings and mice. Mutation in PAX3 causes Waardenburg syndrome, and craniofacial-deafness-hand syndrome. The Splotch phenotype in mouse exhibits defects in neural crest derivatives such as, pigment cells, sympathetic ganglia and cardiac neural crest-derived structures. The PAX family also plays key roles in several human malignancies. In particular, PAX3 is involved in rhabdomyosarcoma and tumours of neural crest origin, including melanoma and neuroblastoma. This review critically evaluates the roles of PAX/Pax in oncogenesis. It especially highlights recent advances in knowledge of how their genetic alterations directly interfere in the transcriptional networks that regulate cell differentiation, proliferation, migration and survival and may contribute to oncogenesis.

MeSH Terms
Alternative Splicing Animals Embryonic Development/genetics Genetic Therapy Humans Melanocytes/cytology,metabolism Melanoma/etiology,genetics Mice Models, Genetic Muscle Development/genetics Neoplasms/etiology,genetics,therapy Neuroblastoma/etiology,genetics Neurogenesis/genetics Oncogenes Paired Box Transcription Factors/genetics Rhabdomyosarcoma/etiology,genetics
Chemicals
Paired Box Transcription Factors
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Wang Qiuyu
School of Biology, Chemistry and Health Science, Manchester Metropolitan University, and Department of Pathology Sciences, Christie Hospital, Manchester, United Kingdom.
Fang Wen-Hui
Krupinski Jerzy
Kumar Shant
Slevin Mark
Kumar Patricia
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Article Info
Journal
Journal of cellular and molecular medicine
Abbr.
J Cell Mol Med
ISSN
1582-1838
DOI
10.1111/j.1582-4934.2008.00427.x
Published
2008-12-00
Epub
2008-00-04
Pages
2281-94
Language
English
Region
England
NLM ID
101083777
PMCID
PMC4514106
Subset
IM
External Links
PubMed source DOI: 10.1111/j.1582-4934.2008.00427.x PMC Full Text View journal details
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