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Updated: Jan 23, 2026
Electroporation of Craniofacial Mesenchyme
Published on: November 28, 2011
Expression pattern of Kmt2d in murine craniofacial tissues
Chunmin Dong1, Meenakshi Umar1, Garrett Bartoletti1
1Department of Cell and Molecular Biology, Tulane University, New Orleans, LA 70118, USA.
Abstract:
Formation of the calvaria is a multi-staged process and is regulated by multiple genetic factors. Disruption of normal calvarial development usually causes craniosynostosis, a prevalent birth defect characterized by premature fusion of calvarial bone. Recent studies have identified mutations of KMT2D allele in patients with craniosynostosis, indicating a potential role for Kmt2d in calvarial development. KMT2D mutations have also been implicated in Kabuki syndrome, which features a distinct facial appearance, skeletal abnormality, growth retardation and intellectual disability. However, the expression pattern of Kmt2d has not been fully elucidated. In the present study we examined the expression pattern of Kmt2d at multiple stages of embryo development in mice, with a focus on the craniofacial tissues. Our in situ hybridization results showed that Kmt2d mRNA is expressed in the developing calvarial osteoblasts, epithelia and neural tissues. Such an expression pattern is in line with the phenotypes of Kabuki syndrome, suggesting that Kmt2d plays an intrinsic role in normal development and homeostasis of these craniofacial tissues.
Insights
This study reveals Kmt2d gene expression in developing mouse skulls, linking it to craniosynostosis and Kabuki syndrome. Understanding Kmt2d’s role is crucial for craniofacial development research.
Area of Science:
- Developmental Biology
- Genetics
- Craniosynostosis Research
Background:
- Calvarial formation is a complex process regulated by numerous genes.
- Craniosynostosis, a birth defect involving premature skull fusion, is linked to KMT2D mutations.
- KMT2D mutations are also associated with Kabuki syndrome, affecting facial and skeletal development.
Purpose of the Study:
- To investigate the expression pattern of Kmt2d during embryonic development in mice.
- To focus on the role of Kmt2d in craniofacial tissue development.
Main Methods:
- In situ hybridization was used to examine Kmt2d mRNA expression.
- Analysis was performed across multiple stages of mouse embryonic development.
Main Results:
- Kmt2d mRNA was detected in developing calvarial osteoblasts, epithelia, and neural tissues.
- Expression patterns were observed during key embryonic developmental stages.
Conclusions:
- The expression pattern of Kmt2d supports its intrinsic role in craniofacial tissue development and homeostasis.
- Findings provide insights into the genetic basis of craniosynostosis and Kabuki syndrome.
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