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Mechanisms underlying two genetically distinct forms of cleft palate linked

Date:
April 28, 2010
Source:
Journal of Clinical Investigation
Summary:
Cleft lip and cleft palate are frequent and debilitating congenital malformations. Mutations in the genes p63 and IRF6 have each been shown to cause cleft lip and cleft palate, but the molecular and cellular mechanisms underlying this have not been clearly determined -- until now.

Cleft lip and cleft palate are frequent and debilitating congenital malformations. Mutations in the genes p63 and IRF6 have each been shown to cause cleft lip and cleft palate, but the molecular and cellular mechanisms underlying this have not been clearly determined.

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However, two independent teams of researchers -- one led by Jill Dixon, at the University of Manchester, United Kingdom, and Hans van Bokhoven, at Radboud University Nijmegen Medical Centrum, The Netherlands, and the other led by Antonio Costanzo, at the University of Rome "Tor Vergata," Italy -- have now found that in mice p63 and IRF6 operate within a regulatory loop to coordinate key events in the normal development of the palate (the structure that separates the nasal cavity from the oral cavity, allowing simultaneous breathing and eating); disruption of this loop as a result of mutations in p63 and IRF6 causes cleft lip and cleft palate.

Amel Gritli-Linde, at the University of Gothenburg, Sweden, highlights the importance of these studies in an accompanying commentary.

The research appears in the Journal of Clinical Investigation.


Story Source:

The above story is based on materials provided by Journal of Clinical Investigation. Note: Materials may be edited for content and length.


Journal References:

  1. Helen A. Thomason, Huiqing Zhou, Evelyn N. Kouwenhoven, Gian-Paolo Dotto, Gaia Restivo, Bach-Cuc Nguyen, Hayley Little, Michael J. Dixon, Hans Van Bokhoven and Jill Dixon. Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice. Journal of Clinical Investigation, 2010; DOI: 10.1172/JCI40266
  2. Francesca Moretti, Barbara Marinari, Nadia Lo Iacono, Elisabetta Botti, Alessandro Giunta, Giulia Spallone, Giulia Garaffo, Emma Vernersson-Lindahl, Giorgio Merlo, Alea A. Mills, Costanza Ballarς, Stefano Alemΰ, Sergio Chimenti, Luisa Guerrini and Antonio Costanzo. A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias. Journal of Clinical Investigation, 2010; DOI: 10.1172/JCI40267
  3. Amel Gritli-Linde. p63 and IRF6: brothers in arms against cleft palate. Journal of Clinical Investigation, 2010; DOI: 10.1172/JCI42821

Cite This Page:

Journal of Clinical Investigation. "Mechanisms underlying two genetically distinct forms of cleft palate linked." ScienceDaily. ScienceDaily, 28 April 2010. <www.sciencedaily.com/releases/2010/04/100426212643.htm>.
Journal of Clinical Investigation. (2010, April 28). Mechanisms underlying two genetically distinct forms of cleft palate linked. ScienceDaily. Retrieved February 1, 2015 from www.sciencedaily.com/releases/2010/04/100426212643.htm
Journal of Clinical Investigation. "Mechanisms underlying two genetically distinct forms of cleft palate linked." ScienceDaily. www.sciencedaily.com/releases/2010/04/100426212643.htm (accessed February 1, 2015).

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