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Genes and Pathways Underpinning Klinefelter Syndrome at Bulk and Single-Cell Levels.
Tian, Linlin; Yu, Yan; Mao, Ziqing; Xu, Dandan; Zhang, Hongbo; Qiao, Mengkai; Chen, Tong; Liu, Wen.
Afiliação
  • Tian L; Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China.
  • Yu Y; Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China.
  • Mao Z; Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China.
  • Xu D; Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China.
  • Zhang H; Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China.
  • Qiao M; Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China.
  • Chen T; Department of Urology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, People's Republic of China. doctor_chentong@163.com.
  • Liu W; Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan, 250001, Shandong, China. liuwen0905@126.com.
Biochem Genet ; 2024 Feb 19.
Article em En | MEDLINE | ID: mdl-38374521
ABSTRACT
Klinefelter syndrome (KS) is the most frequent genetic anomaly in infertile men. Given its unclear mechanism, we aim to investigate critical genes and pathways in the pathogenesis of KS based on three bulk and one single-cell transcriptome data sets from Gene Expression Omnibus. We merged two data sets (GSE42331 and GSE47584) with human KS whole blood samples. When comparing the control and KS samples, five hub genes, including defensin alpha 4 (DEFA4), bactericidal permeability increasing protein (BPI), myeloperoxidase (MPO), intelectin 1 (ITLN1), and Xg Glycoprotein (XG), were identified. Besides, infiltrated degree of certain immune cells such as CD56bright NK cell were positively associated with the expression of ITLN1 and XG. Kyoto Encyclopedia of Genes and Genomes analysis identified upregulated phosphatidylinositol 3-kinase (PI3K)/AKT pathway in KS. Gene set enrichment analysis followed by gene set variation analysis confirmed the upregulation of G2M checkpoint and heme metabolism in KS. Thereafter, the GSE200680 data set was used for external validation of the expression variation of hub genes from healthy to KS testicular samples, and each hub gene yielded excellent discriminatory capability for KS without exception. At the single-cell level, the GSE136353 data set was utilized to evaluate intercellular communication between different cell types in KS patient, and strong correlations were detected between macrophages/ dendritic cells/ NK cells and the other cell types. Collectively, we provided hub genes, pathways, immune cell infiltration degree, and cell-cell communication in KS, warranting novel insights into the pathogenesis of this disease.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Biochem Genet Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Biochem Genet Ano de publicação: 2024 Tipo de documento: Article