Novel mutations in the TP63 gene are potentially associated with Müllerian duct anomalies
X Wang, X Zhang, S Liu, G Li, L Cui, Y Qin… - Human …, 2016 - academic.oup.com
SUMMARY ANSWER: The novel mutation c.* 374 G> A in the TP63 gene resulted in
decreased expression of TP63 by generating new binding sites with miR-1260a/miR-532-3p
and revealed the potential association between TP63 and human MDAs. WHAT IS KNOWN
ALREADY: It has been shown that mice lacking Tp63 exhibit hypoplastic genitalia, a single
cloacal opening, and persistence of columnar epithelium at lower genital tract sites. It has
also been reported that a nonsense mutation in EMX2 results in decreased TP63 expression …
decreased expression of TP63 by generating new binding sites with miR-1260a/miR-532-3p
and revealed the potential association between TP63 and human MDAs. WHAT IS KNOWN
ALREADY: It has been shown that mice lacking Tp63 exhibit hypoplastic genitalia, a single
cloacal opening, and persistence of columnar epithelium at lower genital tract sites. It has
also been reported that a nonsense mutation in EMX2 results in decreased TP63 expression …
SUMMARY ANSWER: The novel mutation c.* 374 G> A in the TP63 gene resulted in decreased expression of TP63 by generating new binding sites with miR-1260a/miR-532-3p and revealed the potential association between TP63 and human MDAs.
WHAT IS KNOWN ALREADY: It has been shown that mice lacking Tp63 exhibit hypoplastic genitalia, a single cloacal opening, and persistence of columnar epithelium at lower genital tract sites. It has also been reported that a nonsense mutation in EMX2 results in decreased TP63 expression in a woman with MDAs. However, generally in humans the association between TP63 and MDAs is unknown.
Oxford University Press