A TP63 mutation identified in a Han Chinese family with ectodermal dysplasia
Copyright © 2023 Elsevier Ltd. All rights reserved..
OBJECTIVE: The purpose of this study was to identify a pathogenic mutation located in TP63 in a nuclear Han Chinese family.
DESIGN: Whole-exome sequencing and Sanger sequencing were performed to identify candidate variants. The AlphaFold and PyMOL predicted the three-dimensional structure of the protein. Single-cell RNA-sequencing data and spatiotemporal transcriptomic atlas were used to generate the dissection of candidate gene expression at single-cell resolution. Significant genes (Pearson's coefficient ≥0.8 and P < 0.05) were identified for Gene Ontology (GO) analysis and Kyoto encyclopedia of genes and genomes (KEGG) pathways analysis.
RESULTS: A heterozygous missense variant at TP63 exon 8 (c.1010 G>A:p.Arg337Gln) was identified in the proband. This variant was predicted deleterious and likely to impair the local stability of the protein. In addition, single-cell RNA-sequencing indicated that TP63 was highly expressed in skin tissues. Furthermore, spatial transcriptome data of mice embryos showed TP63 was mainly enriched in the mucosal epithelium, thymus, epidermis, mesenchyme, and surface ectoderm. GO and KEGG pathway annotation analysis revealed that TP63 played a positive role in the process of ectoderm via the TGF-beta signaling pathway.
CONCLUSIONS: The missense variant of TP63 (c.1010 G>A:p.Arg337Gln) was associated with ectodermal dysplasia.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:152 |
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| Enthalten in: |
Archives of oral biology - 152(2023) vom: 15. Aug., Seite 105731 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Zhou, Xi [VerfasserIn] |
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| Links: |
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| Themen: |
Ectodermal dysplasia |
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| Anmerkungen: |
Date Completed 12.06.2023 Date Revised 12.06.2023 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.archoralbio.2023.105731 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM357593790 |
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| 245 | 1 | 2 | |a A TP63 mutation identified in a Han Chinese family with ectodermal dysplasia |
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| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2023 Elsevier Ltd. All rights reserved. | ||
| 520 | |a OBJECTIVE: The purpose of this study was to identify a pathogenic mutation located in TP63 in a nuclear Han Chinese family | ||
| 520 | |a DESIGN: Whole-exome sequencing and Sanger sequencing were performed to identify candidate variants. The AlphaFold and PyMOL predicted the three-dimensional structure of the protein. Single-cell RNA-sequencing data and spatiotemporal transcriptomic atlas were used to generate the dissection of candidate gene expression at single-cell resolution. Significant genes (Pearson's coefficient ≥0.8 and P < 0.05) were identified for Gene Ontology (GO) analysis and Kyoto encyclopedia of genes and genomes (KEGG) pathways analysis | ||
| 520 | |a RESULTS: A heterozygous missense variant at TP63 exon 8 (c.1010 G>A:p.Arg337Gln) was identified in the proband. This variant was predicted deleterious and likely to impair the local stability of the protein. In addition, single-cell RNA-sequencing indicated that TP63 was highly expressed in skin tissues. Furthermore, spatial transcriptome data of mice embryos showed TP63 was mainly enriched in the mucosal epithelium, thymus, epidermis, mesenchyme, and surface ectoderm. GO and KEGG pathway annotation analysis revealed that TP63 played a positive role in the process of ectoderm via the TGF-beta signaling pathway | ||
| 520 | |a CONCLUSIONS: The missense variant of TP63 (c.1010 G>A:p.Arg337Gln) was associated with ectodermal dysplasia | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Ectodermal dysplasia | |
| 650 | 4 | |a Pedigree discovery | |
| 650 | 4 | |a TP63 | |
| 650 | 4 | |a Whole-exome sequencing | |
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| 650 | 7 | |a Tumor Suppressor Proteins |2 NLM | |
| 650 | 7 | |a TP63 protein, human |2 NLM | |
| 700 | 1 | |a Zhang, Chengcheng |e verfasserin |4 aut | |
| 700 | 1 | |a Fan, Liwen |e verfasserin |4 aut | |
| 700 | 1 | |a Wu, Shanshan |e verfasserin |4 aut | |
| 700 | 1 | |a Yao, Siyue |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Lin |e verfasserin |4 aut | |
| 700 | 1 | |a Zhong, Weijie |e verfasserin |4 aut | |
| 700 | 1 | |a Ma, Lan |e verfasserin |4 aut | |
| 700 | 1 | |a Pan, Yongchu |e verfasserin |4 aut | |
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