BACKGROUND:Aberrant expression of some transcription factors involved in the Heghog signaling pathway occurs in patients with polydactyly,and these transcription factors regulate the expression of massive target genes,thereby affecting cellular function.OBJECTIVE:To analyze the transcriptome characterization of patients with polydactyly by single-cell transcriptome analysis.METHODS:The single-cell transcriptome data of mesenchymal and epithelial cells of four patients with polydactyly were downloaded from the GEO public database.Fibroblasts and keratinocytes were categorized into cell subsets,and the transcription factors within each subset were examined.A regulatory network of these transcription factors and their target genes was developed,and the functions of these regulatory factors were analyzed.RESULTS AND CONCLUSION:The transcriptional profiling data of individual cells indicated that the regulatory factors strongly linked to cell functionality in polydactyly include the transcription factors HOXD13,MSX2,LHX2,EMX2,LEF1,CREB3L2,and LHX2 of the HOX family and GLI2 transcription factors.In fibroblasts,HOXD13,MSX2,and LHX2 are involved in polydactyly,whereas HES2 and GLIS1 are crucial for the formation and development of keratinocytes.To conclude,the elevated expression of transcription factors including HOXD13,MSX2,and LHX2 is potentially closely associated with the development of polydactyly.Potential therapeutic strategies that may be offered to correct or prevent polydactyly by targeting specific transcription factors or modulating their activity.
关键词
多指畸形/转录因子/生物信息学/单细胞转录组分析/微环境/Heghog信号通路/大数据分析
Key words
polydactyly/transcription factors/bioinformatics/single-cell transcriptome analysis/microenvironment/Heghog signaling pathway/bid data analysis
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万方数据