Featured Research

from universities, journals, and other organizations

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.

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 April 24, 2014 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 April 24, 2014).

Share This



More Health & Medicine News

Thursday, April 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Deadly Fungus Killing Bats, Spreading in US

Deadly Fungus Killing Bats, Spreading in US

AP (Apr. 24, 2014) — A disease that has killed more than six million cave-dwelling bats in the United States is on the move and wildlife biologists are worried. White Nose Syndrome, discovered in New York in 2006, has now spread to 25 states. (April 24) Video provided by AP
Powered by NewsLook.com
Companies Ramp Up Wellness to Lower Health Costs

Companies Ramp Up Wellness to Lower Health Costs

AP (Apr. 24, 2014) — That little voice telling you to exercise, get in shape and get healthy is probably coming from your boss. More companies are beefing up wellness programs to try and cut down their health care costs. (April 24) Video provided by AP
Powered by NewsLook.com
Blood From World's Oldest Woman Suggests Life Limit

Blood From World's Oldest Woman Suggests Life Limit

Newsy (Apr. 24, 2014) — Scientists say for the extremely elderly, their stem cells might reach a state of exhaustion. This could limit one's life span. Video provided by Newsy
Powered by NewsLook.com
FDA Wants To Ban Sales Of E-Cigarettes To Minors

FDA Wants To Ban Sales Of E-Cigarettes To Minors

Newsy (Apr. 24, 2014) — The Food and Drug Administration wants to crack down on the use of e-cigarettes, banning the sale of the product to minors. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins