home   genetic news   bioinformatics   biotechnology   literature   journals   ethics   positions   events   sitemap
  HUM-MOLGEN -> Genetic News | search  

The Genetic Origins of Cleft Lip

  October, 16 2008 7:08
your information resource in human molecular genetics

The first common genetic variant strongly associated with cleft lip has been identified in a study published online in Nature Genetics. The finding highlights a previously unknown developmental pathway underlying the origin of this birth defect.

Cleft lips or palates occur in approximately 1 of every 700 live births, and are characterized by facial abnormalities. Jeffrey Murray and colleagues previously showed that mutations in the gene IRF6 are associated with a rare clefting disorder called Van der Woude syndrome, although the specific variant that is responsible for the cleft remained unknown. They now identify a genetic variant associated with risk of the more common, nonsydnromic form of cleft lip. This variant promotes expression of IRF6 in the mouse embryo at sites where the facial areas fuse, and is activated by another gene product involved in facial development, AP-2alpha.

Although evidence is mounting that 'regulatory' variants have an important role in the genetic basis of common, complex disorders, the variant identified in this study is one of the first clear examples.

Author contact:

Jeffrey Murray (University of Iowa, Iowa City, IA, USA)
E-mail: jeff-murray@uiowa.edu

Abstract available online.

(C) Nature Genetics press release.

Message posted by: Trevor M. D'Souza

print this article mail this article
Latest News
Variants Associated with Pediatric Allergic Disorder

Mutations in PHF6 Found in T-Cell Leukemia

Genetic Risk Variant for Urinary Bladder Cancer

Antibody Has Therapeutic Effect on Mice with ALS

Regulating P53 Activity in Cancer Cells

Anti-RNA Therapy Counters Breast Cancer Spread

Mitochondrial DNA Diversity

The Power of RNA Sequencing

‘Pro-Ageing' Therapy for Cancer?

Niche Genetics Influence Leukaemia

Molecular Biology: Clinical Promise for RNA Interference

Chemoprevention Cocktail for Colon Cancer

more news ...

Generated by News Editor 2.0 by Kai Garlipp
WWW: Kai Garlipp, Frank S. Zollmann.
7.0 © 1995-2023 HUM-MOLGEN. All rights reserved. Liability, Copyright and Imprint.