Upstream CpG island methylation of the <i>PAX3</i> gene in human rhabdomyosarcomas

Kurmasheva, Raushan T.; Peterson, Charlotte A.; Parham, David M.; Chen, Bin; McDonald, Rachel; Cooney, Craig A.

doi:10.1002/pbc.20285

Cited by 25 publications

(14 citation statements)

References 64 publications

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“…HIC1, RASSF1A, and PRKCDBP were previously reported as hypermethylated genes in lung cancer Dammann et al 2000;Xu et al 2001), but this is the first report indicating that IRF7, ASC, FABP3, and PAX3 are also hypermethylated in lung cancer, although these were previously known as hypermethylated genes in cancers other than that of the lung (Yu et al 2003;Levine et al 2003;Huynh et al 1996;Kurmasheva et al 2005). Receptor-interacting serine-threonine kinase (RIPK) 3, which is part of the same family as RIPK1, which contains a death domain, has never been reported to be hypermethylated in any cancers before our report.…”

Section: Resultsmentioning

confidence: 75%

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Microarray analysis of promoter methylation in lung cancers

et al. 2006

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Aberrant DNA methylation is an important event in carcinogenesis. Of the various regions of a gene that can be methylated in cancers, the promoter is the most important for the regulation of gene expression. Here, we describe a microarray analysis of DNA methylation in the promoter regions of genes using a newly developed promoter-associated methylated DNA amplification DNA chip (PMAD). For each sample, methylated Hpa II-resistant DNA fragments and Msp Icleaved (unmethylated + methylated) DNA fragments were amplified and labeled with Cy3 and Cy5 respectively, then hybridized to a microarray containing the promoters of 288 cancer-related genes. Signals from Hpa II-resistant (methylated) DNA (Cy3) were normalized to signals from Msp I-cleaved (unmethylated + methylated) DNA fragments (Cy5). Normalized signals from lung cancer cell lines were compared to signals from normal lung cells. About 10.9% of the cancer-related genes were hypermethylated in lung cancer cell lines. Notably, HIC1, IRF7, ASC, RIPK3, RASSF1A, FABP3, PRKCDBP, and PAX3 genes were hypermethylated in most lung cancer cell lines examined. The expression profiles of these genes correlated to the methylation profiles of the genes, indicating that the microarray analysis of DNA methylation in the promoter region of the genes is convenient for epigenetic study. Further analysis of primary tumors indicated that the frequency of hypermethylation was high for ASC (82%) and PAX3 (86%) in all tumor types, and high for RIPK3 in small cell carcinoma (57%). This demonstrates that our PMAD method is effective at finding epigenetic changes during cancer.

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Section: Resultsmentioning

confidence: 75%

“…This gene is hypermethylated in breast cancer (Levine et al 2003). Paired box gene 3 (PAX3) was recently reported to be hypermethylated in rhabdomyosarcoma (Kurmasheva et al 2005). This gene is a member of the paired box (PAX) family of transcription factors.…”

Section: Resultsmentioning

confidence: 99%

Microarray analysis of promoter methylation in lung cancers

et al. 2006

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“…For example, the IGF2 cluster has a gametic DMR located 2 kb upstream from the H19 nc RNA promoter, which is methylated only in the paternal gamete and is maintained thereafter in all somatic tissues 41. Kurmasheva et al 42 suggested PAX3 gene methylation may be correlated with gene inactivation.…”

Section: Discussionmentioning

confidence: 99%

Maternal transmission effects of the PAX genes among cleft case–parent trios from four populations

et al. 2009

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Isolated cleft lip with or without cleft palate (CL/P) is among the most common human birth defects, with a prevalence of 1 in 700 live births. The paired box (PAX) genes have been suggested as candidate genes for CL/P based largely on mouse models; however, few human studies have focused on this gene family. This study tests for association between markers in four PAX genes and CL/P using a case-parent trio design considering parent-of-origin effects. Trios from four populations (76 from Maryland, 146 from Taiwan, 35 from Singapore, and 40 from Korea) were genotyped for 34 single nucleotide polymorphisms (SNPs) in the PAX3, PAX6, PAX7, and PAX9 genes. We performed the transmission disequilibrium test (TDT) on individual SNPs. Parent-of-origin effects were assessed using the transmission asymmetry test (TAT) and the parent-of- origin likelihood ratio test (PO-LRT). TDT analysis showed one SNP (rs766325) in PAX7 yielding evidence of linkage and association when parent-of-origin was not considered, with an OR(transmission) = 1.62 (P = 0.003), and five SNPs in PAX6 (including two pairs in near perfect linkage disequilibrium). TAT analysis of all trios revealed two SNPs in PAX7 and four SNPs in PAX3 showing significant excess maternal transmission. For these six SNPs, the maternal OR(transmission) ranged between 1.74 and 2.40, and PO-LRT was also significant (P-values = 0.035–0.012). When this analysis was limited to trios with male cases, SNPs in PAX7 showed higher maternal OR(transmission) and greater significance. PAX genes may influence the risk of CL/P through maternal effects, possibly imprinting, which seems to be stronger among male cases.

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“…Unlike normal muscle, a CpG island within PAX3 is hypermethylated in the majority of ERMS but not in most ARMS. This CpG methylation is inversely correlated with PAX3 expression [51].…”

Section: Pax3 Gene In Embryogenesis and Cancermentioning

confidence: 99%

Paxgenes in embryogenesis and oncogenesis

Wang

Fang

Krupiński

et al. 2008

J Cellular Molecular Medi

137

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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. PAY/Paxgenes 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.

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Upstream CpG island methylation of the PAX3 gene in human rhabdomyosarcomas

Cited by 25 publications

References 64 publications

Microarray analysis of promoter methylation in lung cancers

Microarray analysis of promoter methylation in lung cancers

Maternal transmission effects of the PAX genes among cleft case–parent trios from four populations

Paxgenes in embryogenesis and oncogenesis

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