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Transcriptomic analysis of the upper lip and primary palate development in mice
Sini Cai1, Nuo Si2, Yanyang Wang1
1The Department of Cleft Lip and Palate of Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Frontiers in Genetics
|January 23, 2023
Summary
This study reveals key gene expression patterns and signaling pathways involved in upper lip and primary palate fusion. Findings offer new insights into normal development and the causes of cleft lip and palate (CL/P).
Area of Science:
- Developmental Biology
- Genomics
- Congenital Malformations
Background:
- Normal upper lip and primary palate fusion is a complex, regulated cellular process.
- Cleft lip with or without palate (CL/P) is a common congenital malformation linked to fusion abnormalities.
- Precise regulatory mechanisms of lip-palate fusion remain incompletely understood.
Purpose of the Study:
- To comprehensively analyze gene expression profiles during mouse upper lip and primary palate fusion.
- To identify novel genes and signaling pathways critical for this developmental process.
- To provide insights into the etiology of cleft lip and palate (CL/P).
Main Methods:
- RNA sequencing of mouse lambdoidal junction tissues at key embryonic fusion stages (E10.5, E11.5, E12.5).
- Differential gene expression analysis, gene set enrichment analysis (GSEA), and protein-protein interaction (PPI) network analysis.
- Identification and analysis of differentially expressed genes (DEGs) and alternative splicing events.
Main Results:
- Identified stage-specific gene expression profiles during lip-palate fusion.
- Discovered novel DEGs (e.g., Krt5, Pax1, Ambn, Hey2, Tnmd) and confirmed known ones.
- Revealed sequential activation of Wnt, PI3K-Akt, MAPK, Hippo, and TGF-beta pathways; identified key genes (Tnn, Wnt3a, Wnt16) and alternative splicing events (Gtpbp8, Armcx1, Tle3, Numa1).
- PPI network analysis highlighted hub genes (Col1a2, Fos, Bmp2, Shh, Col1a1, Wnt3a, Anxa1, Gem).
Conclusions:
- This study provides a detailed molecular landscape of upper lip and primary palate development.
- Identified novel genes and pathways implicated in lip-palate fusion and CL/P etiology.
- Offers a foundation for future research into craniofacial development and congenital disorders.
