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ARHGAP29 Mutation Is Associated with Abnormal Oral Epithelial Adhesions.
B J Paul1, K Palmer2, J C Sharp2
11 Department of Anatomy and Cell Biology, The University of Iowa, Iowa City, IA, USA.
Journal of Dental Research
|August 18, 2017
Summary
ARHGAP29 loss-of-function mutations are linked to nonsyndromic cleft lip and/or palate (NSCL/P). This study shows ARHGAP29 is essential for embryonic survival and heterozygosity increases oral adhesions during development.
Area of Science:
- Genetics and Developmental Biology
- Craniofacial Development
- Birth Defects Research
Background:
- Nonsyndromic cleft lip and/or palate (NSCL/P) is a common birth defect with complex genetic causes.
- Previous research linked mutations in the ARHGAP29 gene to an increased risk of NSCL/P.
Purpose of the Study:
- To investigate the in vivo effects of a specific ARHGAP29 mutation (K326X) found in NSCL/P patients.
- To determine the role of ARHGAP29 in embryonic survival and craniofacial development.
Main Methods:
- Generated a novel murine allele (Arhgap29K326X) mimicking the human mutation.
- Analyzed embryos from Arhgap29K326X/+ intercrosses at various embryonic stages.
- Utilized histological analysis and immunofluorescence to examine orofacial structures and cell markers.
Main Results:
- Homozygous Arhgap29K326X mutations were lethal before embryonic day 8.5.
- Heterozygous Arhgap29K326X/+ embryos displayed significantly increased incidence and length of oral adhesions.
- ARHGAP29 was detected in periderm cells at sites of oral adhesion.
Conclusions:
- ARHGAP29 is crucial for embryonic survival.
- Loss-of-function variants in ARHGAP29 increase oral adhesions during critical orofacial development stages.
- The study validates the pathogenic nature of the human K326X mutation in vivo and highlights a novel role for ARHGAP29 in craniofacial development.
Keywords:
cleft lipcleft palatecongenital abnormalitiesembryonic developmentgenome-wide association studymiceMore Related Videos
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