A dominant mutation etiologic for human tricho-dento-osseous syndrome impairs the ability of DLX3 to downregulate ΔNp63α
Authors: Luisa Festa
Girolama La Mantia
Antonella Di Costanzo
Maria Vivo
Viola Calabrò
Giuseppina Roscigno
Maria Morasso
Alessandra Pollice
Journal: Journal of Cellular Physiology (2011)
Discipline: MOLECULAR BIOLOGY & GENETICS
Keywords: homeodomain transcription factors; DLX3; ectodermal appendages; placenta; bones
Affiliations: Department of Structural and Molecular Biology, University of Naples, Naples, Italy.

Abstract:  The homeodomain transcription factors play crucial roles in many developmental processes ranging from organization of the body plan to differentiation of individual tissues. The homeodomain protein Distal-less-3 (DLX3) has an essential role in epidermal stratification and development of ectodermal appendages, placenta and bones. A four-nucleotide deletion in the human DLX3 gene is etiologic for the human hereditary tricho-dento-osseous (TDO) ectodermal dysplasia, a dominant syndrome characterized by abnormalities in hair, nails, teeth, and bones. We have previously demonstrated that DLX3 gene expression induces degradation of ΔNp63α, a specific product of the TP63 gene, a master regulator of multi-layered epithelia. Here we show that the DLX3(TDO) mutant protein is unable to promote ΔNp63α protein degradation and impairs the expression of cell cycle regulatory proteins and skin differentiation markers. However, we found that in cell expressing equal amounts of mutant and wild-type DLX3, ΔNp63α protein level is efficiently regulated implying that genetic heterozygosity at the DLX3 locus protects TDO patients from developing severe p63-associated skin defects. 

Retracted: No

PubPeer comments:
 This work significantly duplicates other published works by A. Nazari, with varying co-authorship lists. See example below. ![file] , 
 The paper reportedly used cement that was chemically and physically identical to that previously used by the group of Alireza Najigivi (see image below). This claim seems highly implausible, since the Najigivi group was working in Malaysia and the Nazari group was working in Iran. In a corrigendum by the Nazari group in a related work, it was stated that the work was originally performed by the Najigivi group. The source was not appropriately cited. ![file] , 
 Regarding  ZnO2 , please see the following thread: https: pubpeer.com publications 50205FFF072F536B7A4F8FBE5643C8 , 
 According to the respective Retraction Notes, material from this paper is duplicated in at least four now-retracted papers. -  Application of artificial neural networks for analytical modeling of Charpy impact energy of functionally graded steels (Nazari 2013) - Retracted [17 August 2020] . -  Prediction microhardness profile of functionally graded steels by ANFIS (Nazari 2013) - Retracted [25 August 2020] . -  Analytical modeling of tensile strength of functionally graded steels (Nazari 2013) - Retracted [25 August 2020] . -  Computer-aided prediction of the Al2O3 nanoparticlesu2019 effects on tensile strength and percentage of water absorption of concrete specimens (Nazari Riahi 2011) - Retracted [6 January 2021] Background here: https: retractionwatch.com 2019 10 15 a-researcher-with-30-retractions-and-counting-the-whistleblower-speaks ,