PAX1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in Situ hybridization (ISH and FISH)

Schnittger, Susanne; Rao, V.V.N. Gopal; Deutsch, Urban; Gruß, Peter; Balling, Rudi; Hansmann, I.

doi:10.1016/s0888-7543(05)80177-6

Cited by 27 publications

(15 citation statements)

References 37 publications

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“…PAX1 (OMIM: 167,411) gene, a member of the PAX family located on chromosome 20p11.2, is essential to regulate fetal development . (Schnittger et al, ). Members of the PAX family typically contain a paired‐box domain and a paired‐type homeodomain, which are essential during fetal development and play critical roles during development of the vertebral column (Wallin et al, ).…”

Section: Introductionmentioning

confidence: 99%

The promising role of PAX1 (aliases: HUP48, OFC2) gene methylation in cancer screening

Fang

Wang

Liou

et al. 2019

Molec Gen & Gen Med

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Background Paired‐box gene 1 ( PAX1 ), a member of the PAX family, plays a role in pattern formation during embryogenesis, and might be essential for development of the vertebral column. Methods PAX1 is silenced by methylation in several cancers and is considered a tumor suppressor gene. Our previous studies reported PAX1 as hypermethylated in cervical cancer tissues, thereby suggesting it as a potential screening marker. Recently, an increasing number of studies have confirmed PAX1 methylation as a promising biomarker in cervical cancer based on its excellent discriminatory ability between high‐grade cervical lesions and normal tissues, resulting in a reduced necessity for referral for colposcopy and biopsy. Additionally, PAX1 is also hypermethylated in other tumors, including those associated with epithelial ovarian cancer, esophageal squamous cell carcinoma, head and neck squamous cell carcinoma, and endometrial carcinoma, and shows relatively good sensitivity and specificity for the detection of these tumors. Results This review summarizes reports of PAX1 methylation and its promising role in cancer screening, especially that associated with cervical cancer. Conclusion According to current evidence, combined testing for human papillomavirus and PAX1 methylation analysis represents an efficacious cervical cancer‐screening protocol.

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Section: Introductionmentioning

confidence: 99%

The promising role of PAX1 (aliases: HUP48, OFC2) gene methylation in cancer screening

Fang

Wang

Liou

et al. 2019

Molec Gen & Gen Med

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“…11 The PAX1 gene belongs to a highly conserved family of developmentally controlled genes that encode transcription factors and play a role in pattern formation during embryogenesis in vertebrates. 12 Specifically, PAX1 is expressed during the development of the skeleton, thymus, and parathyroid glands 13,14 and is frequently methylation silenced in cervical and ovarian cancers. 11,15 Other than the role of frequent methylation silencing of the tumor suppressor PAX1 in cervical cancer cells, the functional role of PAX1 in carcinogenesis remains unknown.…”

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confidence: 99%

Quantitative Analysis of Methylation Status of the PAX1 Gene for Detection of Cervical Cancer

Huang

Lai

Liu

et al. 2010

International Journal of Gynecological Cancer

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“…Inactivation of PAX1 has been observed in patients with CC and is considered to be associated with the methylation of the promoter region (47,48). In a hospital-based study on CC detection, Huang et al (49) observed that the quantitative measurement of PAX1 hypermethylation in cervical samples was highly sensitive and more specific compared with the Hybrid Capture 2 HPV test (0 vs. 5.9% in normal tissue).…”

Section: Discussionmentioning

confidence: 99%

Quantitative DNA methylation analysis of paired box gene 1 and LIM homeobox transcription factor 1 α genes in cervical cancer

et al. 2018

Oncol Lett

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Abstract. DNA methylation is associated with tumorigenesis and may act as a potential biomarker for detecting cervical cancer. The aim of the present study was to explore the methylation status of the paired box gene 1 (PAX1) and the LIM homeobox transcription factor 1 α (LMX1A) gene in a spectrum of cervical lesions in an Eastern Chinese population. This single-center study involved 121 patients who were divided into normal cervix (NC; n=28), low-grade squamous intraepithelial lesion (LSIL; n=32), high-grade squamous intraepithelial lesion (HSIL; n=34) and cervical squamous cell carcinoma (CSCC; n=27) groups, according to biopsy results. Following extraction and modification of the DNA, quantitative assessment of the PAX1 and LMX1A genes in exfoliated cells was performed using pyrosequencing analysis. Receiver operating characteristic (ROC) curves were generated to calculate the sensitivity and specificity of each parameter and cut-off values of the percentage of methylation reference (PMR) for differentiation diagnosis. Analysis of variance was used to identify differences among groups. The PMR of the two genes was significantly higher in the HSIL and CSCC groups compared with that in the NC and LSIL groups (P<0.001). ROC curve analysis demonstrated that the sensitivity, specificity and accuracy for detection of CSCC were 0.790, 0.837 and 0.809, respectively, using PAX1; and 0.633, 0.357 and 0.893, respectively, using LMX1A. These results indicated that quantitative PAX1 methylation demonstrates potential for cervical cancer screening, while further investigation is required to determine the potential of LMX1A methylation.

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PAX1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in Situ hybridization (ISH and FISH)

Cited by 27 publications

References 37 publications

The promising role of PAX1 (aliases: HUP48, OFC2) gene methylation in cancer screening

The promising role of PAX1 (aliases: HUP48, OFC2) gene methylation in cancer screening

Quantitative Analysis of Methylation Status of the PAX1 Gene for Detection of Cervical Cancer

Quantitative DNA methylation analysis of paired box gene 1 and LIM homeobox transcription factor 1 α genes in cervical cancer

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