Journal article

Insertion/Deletion Polymorphisms in the Delta Np63 Promoter Are a Risk Factor for Bladder Exstrophy Epispadias Complex

Simon Wilkins, Ke Wei Zhang, Istiak Mahfuz, Renaud Quantin, Nancy D'Cruz, John Hutson, Michael Ee, Darius Bagli, Karen Aitken, Fion Nga-Yin Fong, Patrick Kwok-Shing Ng, Stephen Kwok-Wing Tsui, Wendy Yin-Wan Fung, Tahmina Banu, Atul Thakre, Kaid Johar, Enrique Jaureguizar, Long Li, Wei Cheng



Bladder exstrophy epispadias complex (BEEC) is a severe congenital anomaly; however, the genetic and molecular mechanisms underlying the formation of BEEC remain unclear. TP63, a member of TP53 tumor suppressor gene family, is expressed in bladder urothelium and skin over the external genitalia during mammalian development. It plays a role in bladder development. We have previously shown that p63(-/-) mouse embryos developed a bladder exstrophy phenotype identical to human BEEC. We hypothesised that TP63 is involved in human BEEC pathogenesis. RNA was extracted from BEEC foreskin specimens and, as in mice, ΔNp63 was the predominant p63 isoform. ΔNp63 expression in the foreskin and bladder ep..

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Awarded by Jack Brockhoff Foundation

Awarded by Helen MacPherson Smith Trust

Funding Acknowledgements

This work was supported by funding from Jack Brockhoff Foundation grant #3095 (2010), Helen MacPherson Smith Trust grant #6940 (2010), and the Victorian Government's Operational Infrastructure Support Program. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.