PAX genes: Roles in development, pathophysiology, and cancer

Lang, Deborah; Powell, Sara; Plummer, R.; Young, Kacey P.; Ruggeri, Bruce

doi:10.1016/j.bcp.2006.06.024

Cited by 246 publications

(238 citation statements)

References 147 publications

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“…21 Previous studies of Pax2 in mouse ocular development have shown congenital optic nerve excavation similar to that seen in our model. 22 The Krd (kidney and renal defect) mouse contains a 7cM transgene-induced deletion on chromosome 19 that includes the Pax2 locus.…”

Section: Discussionsupporting

confidence: 81%

Optic nerve axon number in mouse is regulated by PAX2

Alur¹,

Cox²,

Crawford³

et al. 2008

Journal of American Association for Pediatric Ophthalmology and

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Purpose-Papillorenal syndrome is an autosomal dominant disease caused by mutations in the PAX2 transcription factor gene. Patients often exhibit congenital excavation of the optic nerve and a spectrum of congenital kidney abnormalities. Using a novel mouse model of this syndrome (C57BL/ 6J Pax2 A220G/+ ), we investigated the effect of Pax2 haploinsufficiency on optic nerve axon number. Because Pax2 expression and retinal pigment epithelium pigmentation have a mutually-exclusive relationship during development and because tyrosinase (Tyr) has been shown to modify the penetrance of other ocular development genes, we also investigated whether tyrosinase modified the mutant Pax2 phenotype. Results-Mice heterozygous for a Pax2 mutation show reduced optic nerve axon number compared to age-matched controls. Tyrosinase does not appear to modify this phenotype. Methods-C57BL/6J Conclusion-Our results show thatPax2 is important in determining axon number in mouse optic nerve. The developmental effects of tyrosinase and Pax2 mutation appear to act via different pathways.

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Section: Discussionsupporting

confidence: 81%

Optic nerve axon number in mouse is regulated by PAX2

Alur¹,

Cox²,

Crawford³

et al. 2008

Journal of American Association for Pediatric Ophthalmology and

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show abstract

“…They are regulators of tissue development and cellular differentiation in embryos, acting to promote cell proliferation, migration, and survival (1,2). Generally, expression of PAX genes attenuates when development is complete.…”

mentioning

confidence: 99%

PAX2 Protein Induces Expression of Cyclin D1 through Activating AP-1 Protein and Promotes Proliferation of Colon Cancer Cells

Zhang

Yan

et al. 2012

Journal of Biological Chemistry

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Background: PAX2, a transcription factor, plays a role in embryogenesis. Results: Knockdown of PAX2 inhibits colon cancer cells proliferation and xenograft growth. PAX2 activates AP-1, leading to increased expression of cyclin D1. Conclusion: PAX2 promotes proliferation of colon cancer cells via AP-1. Significance: PAX2 exhibits oncogenic properties in colon cancer cells and may serve as a target for cancer therapy.

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“…4 These transcription factors are expressed in a spatial and temporal pattern during embryogenesis and are implicated in the control of organogenesis in several systems. 5 PAX2 is specifically expressed in the developing central nervous system, eye, ear, and urogenital tract and is essential for the development of these organs. In early developmental stages, PAX2 is first detected in the intermediate mesoderm, from which the Wolffian duct and the kidneys derive.…”

mentioning

confidence: 99%

Expression of PAX2 in papillary serous carcinoma of the ovary: immunohistochemical evidence of fallopian tube or secondary Müllerian system origin?

et al. 2007

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PAX2 is a urogenital developmental transcription factor expressed in the Wolffian ducts, developing kidneys, and Mü llerian ducts during embryonic stage. Its function in renal development is well documented and its clinical application in the diagnosis of lesions of renal origin has been reported recently. However, information on its role in the Mü llerian-derived genital tract is sparse. In this study, we investigated the expression of PAX2 in human female genital tract using immunohistochemistry. We demonstrated that PAX2 was expressed specifically in the epithelial cells of fallopian tube, endometrial and endocervical glands, but not in the stromal tissues in these areas. PAX2 was detected in secondary Mü llerian structures in the ovary, such as endometriotic and endosalpingiotic glands and rete ovarii, but not in ovarian surface epithelium, surface epithelium-derived inclusion cysts, stroma, or sex-cord-derived structures such as follicles, oocytes, and corpus luteum. In addition, PAX2 was detected in 67% of ovarian papillary serous carcinomas (N ¼ 36) but rarely in peritoneal malignant mesotheliomas, with two exceptions (N ¼ 54). Interestingly, the two PAX2-positive 'peritoneal malignant mesotheliomas' were from female patients and were positive for estrogen receptor. The significance of expression of PAX2 and estrogen receptor in these cases is under investigation. Taken together, we suggest that PAX2 is a novel Mü llerian-specific epithelial marker when used in proper clinical settings. Identification of PAX2 in the majority of papillary serous carcinomas of the ovary but not in the ovarian surface epithelium or epithelium-derived inclusion cysts suggests that this malignant epithelial tumor may be directly derived from the primary or secondary Mü llerian epithelium in or surrounding the ovary, rather than from the surface epithelium or its derivatives.

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PAX genes: Roles in development, pathophysiology, and cancer

Cited by 246 publications

References 147 publications

Optic nerve axon number in mouse is regulated by PAX2

Optic nerve axon number in mouse is regulated by PAX2

PAX2 Protein Induces Expression of Cyclin D1 through Activating AP-1 Protein and Promotes Proliferation of Colon Cancer Cells

Expression of PAX2 in papillary serous carcinoma of the ovary: immunohistochemical evidence of fallopian tube or secondary Müllerian system origin?

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