AUTHOR=Wang Hao , Zhu Hui , Zhu Wenjiao , Xu Yue , Wang Nan , Han Bing , Song Huaidong , Qiao Jie 

TITLE=Bioinformatic Analysis Identifies Potential Key Genes in the Pathogenesis of Turner Syndrome

JOURNAL=Frontiers in Endocrinology

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2020.00104

DOI=10.3389/fendo.2020.00104

ISSN=1664-2392

ABSTRACT=<p><bold>Background:</bold> Turner syndrome (TS) is a sex chromosome aneuploidy with a variable spectrum of symptoms including short stature, ovarian failure and skeletal abnormalities. The etiology of TS is complex, and the mechanisms driving its pathogenesis remain unclear.</p><p><bold>Methods:</bold> In our study, we used the online Gene Expression Omnibus (GEO) microarray expression profiling dataset GSE46687 to identify differentially expressed genes (DEGs) between monosomy X TS patients and normal female individuals. The relevant data on 26 subjects with TS (45,XO) and 10 subjects with the normal karyotype (46,XX) was investigated. Then, tissue-specific gene expression, functional enrichment, and protein-protein interaction (PPI) network analyses were performed, and the key modules were identified.</p><p><bold>Results:</bold> In total, 25 upregulated and 60 downregulated genes were identified in the differential expression analysis. The tissue-specific gene expression analysis of the DEGs revealed that the system with the most highly enriched tissue-specific gene expression was the hematologic/immune system, followed by the skin/skeletal muscle and neurologic systems. The PPI network analysis, construction of key modules and manual screening of tissue-specific gene expression resulted in the identification of the following five genes of interest: <italic>CD99, CSF2RA, MYL9, MYLPF</italic>, and <italic>IGFBP2</italic>. <italic>CD99</italic> and <italic>CSF2RA</italic> are involved in the hematologic/immune system, <italic>MYL9</italic> and <italic>MYLPF</italic> are related to the circulatory system, and <italic>IGFBP2</italic> is related to skeletal abnormalities. In addition, several genes of interest with possible roles in the pathogenesis of TS were identified as being associated with the hematologic/immune system or metabolism.</p><p><bold>Conclusion:</bold> This discovery-driven analysis may be a useful method for elucidating novel mechanisms underlying TS. However, more experiments are needed to further explore the relationships between these genes and TS in the future.</p>