Evidence map›Paper›PMID 39472920›Full record

ArticleBMC medical genomics2024

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

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

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Article in BMC medical genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

5 authors.

Xiumin ChenMcKusick-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.
Xiaofang ShenPediatric Orthopedics, Children's Hospital of Soochow University, Suzhou, China.
Tao YangMcKusick-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.
Yixuan CaoMcKusick-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.
Xiuli ZhaoMcKusick-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. xiulizhao@ibms.pumc.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSynpolydactyly (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.

methodWe 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.

resultsAnalysis 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.

conclusionsThese findings evaluated the main genes related to SPD with PAE mutations in HOXD13 and advance our understanding of human limb development.

Indexed as

Gene Regulatory NetworksHomeodomain ProteinsSyndactylyTranscription FactorsAnimalsDisease Models, AnimalHumansMiceMutationPeptidesHomeodomain ProteinsHOXD13 protein, humanHoxd13 protein, mousePeptidespolyalanineTranscription FactorsHOXD13Immune responsePolyalanine expansionSingle-cell RNA sequencingSynpolydactyly

Identifiers

PMID39472920
PMCPMC11523653

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