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New insight into the development of synpolydactyly caused by expansion of HOXD13 polyalanine based on weighted gene co-expression network analysis.
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- Author(s): Chen X;Chen X; Shen X; Shen X; Yang T; Yang T; Cao Y; Cao Y; Zhao X; Zhao X
- Source:
BMC medical genomics [BMC Med Genomics] 2024 Oct 29; Vol. 17 (1), pp. 259. Date of Electronic Publication: 2024 Oct 29.
- Publication Type:
Journal Article; Research Support, Non-U.S. Gov't
- Language:
English
- Additional Information
- Source:
Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
- Publication Information:
Original Publication: London : BioMed Central
- Subject Terms:
- Abstract:
Background: Synpolydactyly (SPD) is mainly caused by mutations of polyalanine expansion (PAE) in the transcription factor gene HOXD13 and the involved cell types and signal pathway are still not clear possible pathways and single-cell expression characteristics of limb bud in HOXD13 PAE mice was analyzed in this study.
Method: We investigated a previous study of a mouse model with SPD and conducted weighted gene co-expression network analysis (WGCNA) using a single-cell RNA sequencing dataset from limb bud cells of SPD mouse model of HOXD13 + 7A heterozygote.
Results: Analysis of WGCNA revealed that synpolydactyly-associated Hoxd13 PAEs alter the immune response and osteoclast differentiation, and enhance DNA replication. Bmp4, Hand2, Hoxd12, Lnp, Prrx1, Gmnn, and Cdc6 were found to play potentially key roles in synpolydactyly.
Conclusions: These findings evaluated the main genes related to SPD with PAE mutations in HOXD13 and advance our understanding of human limb development.
(© 2024. The Author(s).)
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- Contributed Indexing:
Keywords: HOXD13; Synpolydactyly; Immune response; Polyalanine expansion; Single-cell RNA sequencing
- Accession Number:
0 (Homeodomain Proteins)
25191-17-7 (polyalanine)
0 (Transcription Factors)
0 (Hoxd13 protein, mouse)
0 (Peptides)
0 (HOXD13 protein, human)
- Subject Terms:
Syndactyly, type 2
- Publication Date:
Date Created: 20241030 Date Completed: 20241030 Latest Revision: 20241119
- Publication Date:
20241120
- Accession Number:
PMC11523653
- Accession Number:
10.1186/s12920-024-01974-9
- Accession Number:
39472920
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