AI Article Synopsis
- Synpolydactyly (SPD) is primarily linked to mutations in the HOXD13 gene, specifically through polyalanine expansions, and the study aims to clarify the involved cell types and signaling pathways.
- The research employed weighted gene co-expression network analysis on single-cell RNA sequencing data from limb bud cells in a mouse model harboring HOXD13 mutations.
- Results indicated that these mutations affect immune response, osteoclast differentiation, and DNA replication, with specific genes (Bmp4, Hand2, Hoxd12, among others) identified as significant contributors to SPD, enhancing our knowledge of limb development.
Article 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.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11523653 | PMC |
| http://dx.doi.org/10.1186/s12920-024-01974-9 | DOI Listing |
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