New insight into the development of synpolydactyly caused by expansion of HOXD13 polyalanine based on weighted gene co-expression network analysis.

IF 2.1 4区医学 Q3 GENETICS & HEREDITY BMC Medical Genomics Pub Date : 2024-10-29 DOI:10.1186/s12920-024-01974-9

Xiumin Chen, Xiaofang Shen, Tao Yang, Yixuan Cao, Xiuli Zhao

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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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基于加权基因共表达网络分析，对HOXD13多聚丙氨酸扩增导致的并趾畸形发展的新认识

背景：本研究分析了HOXD13 PAE小鼠肢芽的单细胞表达特征：方法：我们对之前的一项SPD小鼠模型研究进行了调查，并利用HOXD13 + 7A杂合子SPD小鼠模型肢芽细胞的单细胞RNA测序数据集进行了加权基因共表达网络分析（WGCNA）：结果：WGCNA分析表明，突触相关Hoxd13 PAEs会改变免疫反应和破骨细胞分化，并增强DNA复制。发现Bmp4、Hand2、Hoxd12、Lnp、Prrx1、Gmnn和Cdc6在突触发育不良中可能起着关键作用：这些研究结果评估了与HOXD13 PAE突变相关的SPD主要基因，加深了我们对人类肢体发育的了解。

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来源期刊

BMC Medical Genomics 医学-遗传学

CiteScore

3.90

自引率

0.00%

发文量

243

审稿时长

3.5 months

期刊介绍： BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.