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Transcriptomic analysis of the upper lip and primary palate development in mice

Background: Normal fusion of the upper lip and primary palate is a complex process involving a series of characteristic and orderly regulated cellular events. Cleft lip with or without palate (CL/P), one of the most common congenital malformations, may be induced by abnormalities in any of these eve...

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Autores principales: Cai, Sini, Si, Nuo, Wang, Yanyang, Yin, Ningbei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9852879/
https://www.ncbi.nlm.nih.gov/pubmed/36685938
http://dx.doi.org/10.3389/fgene.2022.1039850
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author Cai, Sini
Si, Nuo
Wang, Yanyang
Yin, Ningbei
author_facet Cai, Sini
Si, Nuo
Wang, Yanyang
Yin, Ningbei
author_sort Cai, Sini
collection PubMed
description Background: Normal fusion of the upper lip and primary palate is a complex process involving a series of characteristic and orderly regulated cellular events. Cleft lip with or without palate (CL/P), one of the most common congenital malformations, may be induced by abnormalities in any of these events. However, less is known about the precise regulatory process in the fusion of the upper lip and primary palate. Methods: Lambdoidal junction tissues of mice from embryonic days 10.5, 11.5, and 12.5— three key fusion stages—were acquired for RNA sequencing. Results: Gene expression profiles in distinct fusion stages of mice were identified. Some of the differentially expressed genes (DEGs) have been reported to affect upper lip and primary palate development. However, other DEGs, such as Krt5, Pax1, Ambn, Hey2, and Tnmd, have not previously been investigated. Gene set enrichment analysis (GSEA) of these DEGs revealed the sequential intensification of Wnt, PI3K-Akt, MAPK, Hippo, and TGF-beta signaling pathways and identified relatively highly expressed genes including Tnn, Wnt3a, and Wnt16. We also observed substantial alternative splicing events during the fusion of the upper lip and primary palate and identified potentially important genes including Gtpbp8, Armcx1, Tle3, and Numa1. Protein-protein interaction (PPI) network analysis identified a series of hub genes, including Col1a2, Fos, Bmp2, Shh, Col1a1, Wnt3a, Anxa1, Gem, etc. Conclusion: Overall, the results of this study provided a comprehensive analysis of the development of the upper lip and primary palate. Our work provides insight into future studies of normal upper lip and primary palate development and the etiology of CL/P.
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spelling pubmed-98528792023-01-21 Transcriptomic analysis of the upper lip and primary palate development in mice Cai, Sini Si, Nuo Wang, Yanyang Yin, Ningbei Front Genet Genetics Background: Normal fusion of the upper lip and primary palate is a complex process involving a series of characteristic and orderly regulated cellular events. Cleft lip with or without palate (CL/P), one of the most common congenital malformations, may be induced by abnormalities in any of these events. However, less is known about the precise regulatory process in the fusion of the upper lip and primary palate. Methods: Lambdoidal junction tissues of mice from embryonic days 10.5, 11.5, and 12.5— three key fusion stages—were acquired for RNA sequencing. Results: Gene expression profiles in distinct fusion stages of mice were identified. Some of the differentially expressed genes (DEGs) have been reported to affect upper lip and primary palate development. However, other DEGs, such as Krt5, Pax1, Ambn, Hey2, and Tnmd, have not previously been investigated. Gene set enrichment analysis (GSEA) of these DEGs revealed the sequential intensification of Wnt, PI3K-Akt, MAPK, Hippo, and TGF-beta signaling pathways and identified relatively highly expressed genes including Tnn, Wnt3a, and Wnt16. We also observed substantial alternative splicing events during the fusion of the upper lip and primary palate and identified potentially important genes including Gtpbp8, Armcx1, Tle3, and Numa1. Protein-protein interaction (PPI) network analysis identified a series of hub genes, including Col1a2, Fos, Bmp2, Shh, Col1a1, Wnt3a, Anxa1, Gem, etc. Conclusion: Overall, the results of this study provided a comprehensive analysis of the development of the upper lip and primary palate. Our work provides insight into future studies of normal upper lip and primary palate development and the etiology of CL/P. Frontiers Media S.A. 2023-01-06 /pmc/articles/PMC9852879/ /pubmed/36685938 http://dx.doi.org/10.3389/fgene.2022.1039850 Text en Copyright © 2023 Cai, Si, Wang and Yin. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Cai, Sini
Si, Nuo
Wang, Yanyang
Yin, Ningbei
Transcriptomic analysis of the upper lip and primary palate development in mice
title Transcriptomic analysis of the upper lip and primary palate development in mice
title_full Transcriptomic analysis of the upper lip and primary palate development in mice
title_fullStr Transcriptomic analysis of the upper lip and primary palate development in mice
title_full_unstemmed Transcriptomic analysis of the upper lip and primary palate development in mice
title_short Transcriptomic analysis of the upper lip and primary palate development in mice
title_sort transcriptomic analysis of the upper lip and primary palate development in mice
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9852879/
https://www.ncbi.nlm.nih.gov/pubmed/36685938
http://dx.doi.org/10.3389/fgene.2022.1039850
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