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Single-Cell Transcriptome Analysis Defines Expression of Kabuki Syndrome-Associated KMT2D Targets and Interacting
Badam Enkhmandakh1, Paul Robson2, Pujan Joshi3
1Center for Regenerative Medicine and Skeletal Development, Department of Reconstructive Sciences, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06030, USA.
Stem Cells International
|August 22, 2022
Summary
Kabuki syndrome genes KMT2D and KDM6A are crucial for directing gene expression in differentiating mesenchymal stem cells, impacting lineage development.
Area of Science:
- Genetics
- Developmental Biology
- Molecular Biology
Background:
- Kabuki syndrome (KS) is a rare genetic disorder linked to mutations in KMT2D and KDM6A.
- These genes are key components of the SET1/COMPASS complex, involved in histone methylation.
- KS presents with a wide range of developmental abnormalities.
Purpose of the Study:
- To investigate the expression profiles of KMT2D and KDM6A in mouse dental pulp.
- To understand the role of these genes in mesenchymal stem cell differentiation.
Main Methods:
- Single-cell RNA sequencing of mouse dental pulp.
- Analysis of gene co-localization and co-expression patterns.
- Examination of gene expression during osteogenic differentiation of mesenchymal stem cells.
Main Results:
- KMT2D and KDM6A colocalize with other SET1/COMPASS complex genes in incisor pulp.
- KMT2D and KDM6A coexpress with WNT and sonic hedgehog pathway targets.
- Coexpression occurs in mesenchymal stem cells during osteogenic differentiation.
Conclusions:
- KMT2D and KDM6A play a vital role in regulating lineage-specific gene expression.
- These genes are essential for mesenchymal stem cell differentiation processes.
- Findings provide insights into the molecular mechanisms underlying Kabuki syndrome-related developmental defects.
