McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing, 100005, China.
Pediatric Orthopedics, Children's Hospital of Soochow University, Suzhou, China.
BMC Med Genomics. 2024 Oct 29;17(1):259. doi: 10.1186/s12920-024-01974-9.
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.
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.
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.
These findings evaluated the main genes related to SPD with PAE mutations in HOXD13 and advance our understanding of human limb development.
并指（SPD）主要由转录因子基因 HOXD13 中的多聚丙氨酸扩展（PAE）突变引起，涉及的细胞类型和信号通路尚不清楚。本研究分析了 HOXD13 PAE 小鼠趾芽中可能的通路和单细胞表达特征。
我们研究了先前关于具有 SPD 的小鼠模型的一项研究，并使用 HOXD13 + 7A 杂合子 SPD 小鼠模型趾芽细胞的单细胞 RNA 测序数据集进行加权基因共表达网络分析（WGCNA）。
WGCNA 分析表明，与并指相关的 Hoxd13 PAE 改变了免疫反应和破骨细胞分化，并增强了 DNA 复制。发现 Bmp4、Hand2、Hoxd12、Lnp、Prrx1、Gmnn 和 Cdc6 在并指中可能发挥关键作用。
这些发现评估了与 HOXD13 中 PAE 突变相关的主要 SPD 相关基因，并增进了我们对人类肢体发育的理解。
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